Varaico: Literature-Extracted Genetic Variants

WDR31

14 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 93–131UCSCWD domain, G-beta repeat

WD40aa 136–174UCSCWD domain, G-beta repeat

WD40aa 182–216UCSCWD domain, G-beta repeat

WD40aa 268–310UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 31

HGNC Alias Symbol

FLJ35921

Papers

RefSeq ID

Protein change

DNA change

1–12 of 19 variants

2 papers

NM_001012361.4

p.P113S

c.337C>T

2 papers

NM_001012361.4

p.S217N

c.650G>A

2 papers

NM_001012361.4

p.C257S

c.769T>A

2 papers

NM_001012361.4

p.C257S

c.770G>C

1 paper

NM_001012361.4

p.L31P

c.92T>C

1 paper

NM_001012361.4

p.M62L

c.184A>T

1 paper

NM_001012361.4

p.N94K

c.282T>G

1 paper

NM_001012361.4

p.N94K

c.282T>A

1 paper

NM_001012361.4

p.E105*

c.313G>T

1 paper

NM_001012361.4

p.A184T

c.550G>A

1 paper

NM_001012361.4

p.D216fs

c.646_647fs

1 paper

NM_001012361.4

p.R218Q

c.653G>A