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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HPCAL4

HPCAL4

20 papers

RefSeq Summary

The protein encoded by this gene is highly similar to human hippocalcin protein and hippocalcin like-1 protein. It also has similarity to rat neural visinin-like Ca2+-binding protein-type 1 and 2 prot...

Pfam Domains

EF-hand_1aa 64–92UCSCEF hand domain

EF-hand_7aa 98–176UCSCEF-hand domain pair

Gene Aliases

HGNC Name

hippocalcin like 4

HGNC Alias Symbols

HLP4; DKFZp761G122

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 15 variants

2 papers

chr1:39683970 G>T

NM_016257.4

p.R115R

c.345C>A

EF-hand_7

Exome: 80.3% (AC=1173614, hom=472104)Genome: 83.5% (AC=127162, hom=53182)165 overlapping SVs

2 papers

chr1:39682696 C>T

NM_016257.4

p.R139H

c.416G>A

EF-hand_7

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=4, hom=0)164 overlapping SVs

1 paper

chr1:39684543 C>T

NM_016257.4

p.E21K

c.61G>A

exact variant not in gnomAD165 overlapping SVs

1 paper

chr1:39684495 C>T

NM_016257.4

p.D37N

c.109G>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a165 overlapping SVs

1 paper

chr1:39684484 G>A

NM_016257.4

p.S40S

c.120C>T

EF-hand_7

Exome: 33.2% (AC=484948, hom=82076)Genome: 36.5% (AC=55533, hom=10467)165 overlapping SVs

1 paper

chr1:39684129 G>C

NM_016257.4

p.S62S

c.186C>G

exact variant not in gnomAD165 overlapping SVs

1 paper

chr1:39684102 G>A

NM_016257.4

p.T71T

c.213C>T

EF-hand_1

exact variant not in gnomAD165 overlapping SVs

1 paper

chr1:39684082 C>A

NM_016257.4

p.G78V

c.233G>T

EF-hand_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a165 overlapping SVs

1 paper

chr1:39683981 C>T

NM_016257.4

p.G112S

c.334G>A

EF-hand_7

exact variant not in gnomAD165 overlapping SVs

1 paper

chr1:39682732 G>T

NM_016257.4

p.A127E

c.380C>A

EF-hand_7

Exome: 0.0% (AC=1, hom=0)Genome: n/a164 overlapping SVs

1 paper

chr1:39682721 T>C

NM_016257.4

p.M131V

c.391A>G

EF-hand_7

exact variant not in gnomAD164 overlapping SVs

1 paper

chr1:39682710 G>A

NM_016257.4

p.T134T

c.402C>T

EF-hand_7

Exome: 0.1% (AC=1456, hom=6)Genome: 0.1% (AC=134, hom=0)164 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."