Varaico: Literature-Extracted Genetic Variants

WDR37

51 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may fac...

Pfam Domains

WD40aa 146–185UCSCWD domain, G-beta repeat

WD40aa 189–227UCSCWD domain, G-beta repeat

WD40aa 271–309UCSCWD domain, G-beta repeat

WD40aa 313–351UCSCWD domain, G-beta repeat

WD40aa 357–394UCSCWD domain, G-beta repeat

WD40aa 445–484UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 37

HGNC Alias Symbol

KIAA0982

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014023.4

p.L77I

c.229T>A

Surrounding Variants

1 paper

NM_014023.4

p.Y73C

c.218A>G

1 paper

NM_014023.4

p.R67fs

c.199_200fs

1 paper

NM_014023.4

p.F62fs

c.184_185fs

1 paper

NM_014023.4

p.R89H

c.266G>A

1 paper

NM_014023.4

p.R89P

c.266G>C

1 paper

NM_014023.4

p.G94_I97delFs

c.282_291del10

1 paper

NM_014023.4

p.Q95fs

c.283_284fs

1 paper

NM_014023.4

p.Q95fs

c.283_284fs

1 paper

NM_014023.4

p.Q95P

c.284A>C

3 papers

NM_014023.4

p.T115I

c.344C>T

1 paper

NM_014023.4

p.S116R

c.348C>G

1 paper

NM_014023.4

p.S119P

c.355T>C