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.V143_D145del3

c.427_434del9

Surrounding Variants

1 paper

NM_018256.4

p.V137V

c.411G>T

1 paper

NM_018256.4

p.W126_S127delFs

c.378_379delAC

1 paper

NM_018256.4

p.R124W

c.370C>T

1 paper

NM_018256.4

p.S123S

c.369T>A

2 papers

NM_018256.4

p.S162A

c.484T>G

1 paper

NM_018256.4

p.L169S

c.506T>C

1 paper

NM_018256.4

p.L182insFs

c.545dupT

1 paper

NM_018256.4

p.I195delFs

c.585delT

1 paper

NM_018256.4

p.V197I

c.589G>A

1 paper

NM_018256.4

p.G201_T202insFs

c.603_604insG

1 paper

NM_018256.4

p.E112delFs

c.335_336delTT

1 paper

NM_018256.4

p.E111*

c.331G>T