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.D364E

c.1092T>G

Surrounding Variants

1 paper

NM_018256.4

p.L363L

c.1087T>C

1 paper

NM_018256.4

p.Q357insFs

c.1069_1070insAC

1 paper

NM_018256.4

p.V348delFs

c.1043delA

1 paper

NM_018256.4

p.V348I

c.1042G>A

1 paper

NM_018256.4

p.S335_L336del2

c.1003_1007del6

1 paper

NM_018256.4

p.L333S

c.998T>C

1 paper

NM_018256.4

p.P326A

c.976C>G

1 paper

NM_018256.4

p.H320R

c.959A>G

1 paper

NM_018256.4

p.F300L

c.900T>G

1 paper

NM_018256.4

p.F300L

c.900T>A

1 paper

NM_018256.4

p.F300L

c.898T>C

1 paper

NM_018256.4

p.S292L

c.875C>T