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.R271H

c.812G>A

Surrounding Variants

1 paper

NM_014023.4

p.L277L

c.831C>G

1 paper

NM_014023.4

p.S264C

c.791C>G

1 paper

NM_014023.4

p.G282_V291del10

c.844_872del30

1 paper

NM_014023.4

p.D260N

c.778G>A

1 paper

NM_014023.4

p.P257H

c.770C>A

1 paper

NM_014023.4

p.P257T

c.769C>A

1 paper

NM_014023.4

p.S287F

c.860C>T

1 paper

NM_014023.4

p.D253D

c.759C>T

1 paper

NM_014023.4

p.V291fs

c.871_872fs

1 paper

NM_014023.4

p.G292insFs

c.874dupG

1 paper

NM_014023.4

p.D247E

c.741T>A

1 paper

NM_014023.4

p.D247E

c.741T>G