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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VPS37C

VPS37C

35 papers

RefSeq Summary

VPS37C is a subunit of ESCRT-I (endosomal sorting complex required for transport I), a complex in the class E vacuolar protein sorting (VPS) pathway required for sorting ubiquitinated transmembrane pr...

Pfam Domains

Mod_raa 5–150UCSCModifier of rudimentary (Mod(r)) protein

Gene Aliases

HGNC Name

VPS37C subunit of ESCRT-I

HGNC Alias Symbol

FLJ20847

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 26 variants

4 papers

chr11:61132343 A>T

NM_017966.5

p.V182D

c.545T>A

Exome: 8.4% (AC=120915, hom=5498)Genome: 6.2% (AC=9373, hom=380)30 overlapping SVs

3 papers

chr11:61138807 G>T

NM_017966.5

p.T8N

c.23C>A

Mod_r

Exome: 5.1% (AC=74733, hom=2252)Genome: 3.8% (AC=5717, hom=149)30 overlapping SVs

3 papers

chr11:61132460 G>A

NM_017966.5

p.S143F

c.428C>T

Mod_r

Exome: 1.3% (AC=18312, hom=139)Genome: 0.8% (AC=1155, hom=7)30 overlapping SVs

2 papers

chr11:61132295 A>G

NM_017966.5

p.L198S

c.593T>C

Exome: 68.1% (AC=970419, hom=335187)Genome: 74.8% (AC=113585, hom=43391)30 overlapping SVs

1 paper

chr11:61138829 T>C

NM_017966.5

p.M1V

c.1A>G

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=7, hom=0)30 overlapping SVs

1 paper

chr11:61138792 T>G

NM_017966.5

p.E13A

c.38A>C

Mod_r

exact variant not in gnomAD30 overlapping SVs

1 paper

chr11:61138784 G>A

NM_017966.5

p.Q16*

c.46C>T

Mod_r

Exome: n/aGenome: 0.0% (AC=1, hom=0)30 overlapping SVs

1 paper

chr11:61134202 C>T

NM_017966.5

p.Q33Q

c.99G>A

Mod_r

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=7, hom=0)30 overlapping SVs

1 paper

chr11:61134198 G>C

NM_017966.5

p.L35V

c.103C>G

Mod_r

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)30 overlapping SVs

1 paper

chr11:61134186 G>A

NM_017966.5

p.R39W

c.115C>T

Mod_r

Exome: 0.0% (AC=97, hom=0)Genome: 0.0% (AC=21, hom=0)30 overlapping SVs

1 paper

chr11:61134162 G>A

NM_017966.5

p.R47W

c.139C>T

Mod_r

Exome: 0.0% (AC=254, hom=0)Genome: 0.0% (AC=13, hom=0)30 overlapping SVs

1 paper

chr11:61134078 G>A

NM_017966.5

p.R75W

c.223C>T

Mod_r

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=1, hom=0)30 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."