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.V338L

c.1012G>T

Surrounding Variants

1 paper

NM_014023.4

p.V338L

c.1012G>C

2 papers

NM_014023.4

p.R343H

c.1028G>A

1 paper

NM_014023.4

p.D344A

c.1031A>C

1 paper

NM_014023.4

p.F363V

c.1087T>G

1 paper

NM_014023.4

p.S318F

c.953C>T

1 paper

NM_014023.4

p.H317Y

c.949C>T

1 paper

NM_014023.4

p.R303W

c.907C>T

1 paper

NM_014023.4

p.G292insFs

c.874dupG

1 paper

NM_014023.4

p.V291fs

c.871_872fs

1 paper

NM_014023.4

p.S287F

c.860C>T

1 paper

NM_014023.4

p.G282_V291del10

c.844_872del30

1 paper

NM_014023.4

p.L277L

c.831C>G