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

Selected Variant

1 paper

NM_018256.4

p.E112delFs

c.335_336delTT

Surrounding Variants

1 paper

NM_018256.4

p.E111*

c.331G>T

1 paper

NM_018256.4

p.A110T

c.328G>A

1 paper

NM_018256.4

p.Y89C

c.266A>G

1 paper

NM_018256.4

p.E78A

c.233A>C

1 paper

NM_018256.4

p.S77_E78Splc

c.232-1G>C

4 papers

NM_018256.4

p.I75V

c.223A>G

1 paper

NM_018256.4

p.M72L

c.214A>T

1 paper

NM_018256.4

p.M72L

c.214A>C

1 paper

NM_018256.4

p.E71delFs

c.211delC

1 paper

NM_018256.4

p.H69Y

c.205C>T

1 paper

NM_018256.4

p.D67E

c.201C>G

1 paper

NM_018256.4

p.D67E

c.201C>A