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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HSPA1L

HSPA1L

111 papers

RefSeq Summary

This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated ...

Pfam Domains

HSP70aa 8–614UCSCHsp70 protein

Gene Aliases

HGNC Name

heat shock protein family A (Hsp70) member 1 like

HGNC Alias Symbols

HSP70-HOM; hum70t

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 105 variants

13 papers

chr6:31810495 G>A

NM_005527.4

p.T493M

c.1478C>T

HSP70

Exome: 83.2% (AC=1216116, hom=508026)Genome: 87.7% (AC=133414, hom=58821)63 overlapping SVs

10 papers

chr6:31810169 C>T

NM_005527.4

p.E602K

c.1804G>A

HSP70

Exome: 31.7% (AC=436075, hom=72131)Genome: 25.6% (AC=38974, hom=6366)63 overlapping SVs

6 papers

chr6:31811171 C>T

NM_005527.4

p.A268T

c.802G>A

HSP70

Exome: 0.3% (AC=4431, hom=36)Genome: 0.2% (AC=322, hom=1)62 overlapping SVs

4 papers

chr6:31811705 T>A

NM_005527.4

p.K90*

c.268A>T

HSP70

exact variant not in gnomAD63 overlapping SVs

3 papers

chr6:31811951 C>G

NM_005527.4

p.A8P

c.22G>C

HSP70

Exome: 0.5% (AC=7329, hom=47)Genome: 0.9% (AC=1393, hom=11)63 overlapping SVs

3 papers

chr6:31810752 C>T

NM_005527.4

p.T407T

c.1221G>A

HSP70

Exome: 8.0% (AC=116982, hom=6194)Genome: 12.6% (AC=19164, hom=1599)63 overlapping SVs

3 papers

chr6:31810300 T>G

NM_005527.4

p.E558A

c.1673A>C

HSP70

Exome: 2.8% (AC=39887, hom=740)Genome: 4.1% (AC=6316, hom=187)62 overlapping SVs

2 papers

chr6:31811946 T>C

NM_005527.4

p.I9M

c.27A>G

HSP70

Exome: 0.0% (AC=191, hom=0)Genome: 0.0% (AC=18, hom=0)63 overlapping SVs

2 papers

chr6:31811531 C>T

NM_005527.4

p.V148M

c.442G>A

HSP70

Exome: 0.0% (AC=14, hom=0)Genome: n/a62 overlapping SVs

2 papers

chr6:31811092 T>C

NM_005527.4

p.D294G

c.881A>G

HSP70

Exome: 0.0% (AC=306, hom=2)Genome: 0.0% (AC=22, hom=0)63 overlapping SVs

2 papers

chr6:31811054 A>G

NM_005527.4

p.L307L

c.919T>C

HSP70

Exome: 0.6% (AC=8412, hom=271)Genome: 0.8% (AC=1213, hom=57)63 overlapping SVs

2 papers

chr6:31810631 C>T

NM_005527.4

p.E448K

c.1342G>A

HSP70

Exome: 0.0% (AC=7, hom=0)Genome: n/a63 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."