Varaico: Literature-Extracted Genetic Variants

WDR12

45 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

NLEaa 4–70UCSCNLE (NUC135) domain

WD40aa 94–127UCSCWD domain, G-beta repeat

WD40aa 130–171UCSCWD domain, G-beta repeat

WD40aa 179–217UCSCWD domain, G-beta repeat

WD40aa 247–284UCSCWD domain, G-beta repeat

WD40aa 288–325UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 12

HGNC Alias Symbols

YTM1; FLJ10881

Papers

RefSeq ID

Protein change

DNA change

1–12 of 67 variants

4 papers

NM_018256.4

p.I75V

c.223A>G

2 papers

NM_018256.4

p.S162A

c.484T>G

2 papers

NM_018256.4

p.A259T

c.775G>A

1 paper

NM_018256.4

p.M1T

c.2T>C

1 paper

NM_018256.4

p.M1insFs

c.2dupT

1 paper

NM_018256.4

p.M1delFs

c.2delA

1 paper

NM_018256.4

p.M1insFs

c.3dupG

1 paper

NM_018256.4

p.V17I

c.49G>A

1 paper

NM_018256.4

p.I24I

c.72C>A

1 paper

NM_018256.4

p.K42M

c.125A>T

1 paper

NM_018256.4

p.L41delFs

c.123delT

1 paper

NM_018256.4

p.N45fs

c.133_134fs