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

1–12 of 71 variants

7 papers

NM_014023.4

p.S119F

c.356C>T

6 papers

NM_014023.4

p.T125I

c.374C>T

6 papers

NM_014023.4

p.T130I

c.389C>T

4 papers

NM_014023.4

p.S129C

c.386C>G

3 papers

NM_014023.4

p.T115I

c.344C>T

3 papers

NM_014023.4

p.S119Y

c.356C>A

2 papers

NM_014023.4

p.R343H

c.1028G>A

1 paper

NM_014023.4

p.E4G

c.11A>G

1 paper

NM_014023.4

p.S5N

c.14G>A

1 paper

NM_014023.4

p.Q13E

c.37C>G

1 paper

NM_014023.4

p.F62fs

c.184_185fs

1 paper

NM_014023.4

p.R67fs

c.199_200fs