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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WWC2

Variant:p.R93M

WWC2

69 papers

RefSeq Summary

This gene encodes a member of the WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs,...

Pfam Domains

WWaa 12–41UCSCWW domain

WWaa 59–88UCSCWW domain

WWC1aa 300–434UCSCWWC1-like, helical hairpin

Gene Aliases

HGNC Name

WW and C2 domain containing 2

HGNC Alias Symbols

BOMB; FLJ22029

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:183207989 G>T

NM_024949.6

p.R93M

c.278G>T

Exome: 0.0% (AC=68, hom=0)Genome: 0.0% (AC=11, hom=1)30 overlapping SVs

Surrounding Variants

2 papers

chr4:183207983 A>G

NM_024949.6

p.Q91R

c.272A>G

exact variant not in gnomAD30 overlapping SVs

1 paper

chr4:183207968 A>G

NM_024949.6

p.E86G

c.257A>G

exact variant not in gnomAD30 overlapping SVs

1 paper

chr4:183207957 C>T

NM_024949.6

p.T82T

c.246C>T

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

1 paper

chr4:183208088 C>T

NM_024949.6

p.A126V

c.377C>T

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=34, hom=0)30 overlapping SVs

1 paper

chr4:183208093 G>C

NM_024949.6

p.A128P

c.382G>C

exact variant not in gnomAD30 overlapping SVs

2 papers

chr4:183208158 T>C

NM_024949.6

p.L149Splc

c.445+2T>C

exact variant not in gnomAD31 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."