Varaico: Literature-Extracted Genetic Variants

WDR11

217 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

Beta-prop_WDR11_1staa 17–330UCSCWDR11 first beta-propeller

Beta-prop_WDR11_2ndaa 458–840UCSCWDR11 second beta-propeller

TPR_WDR11aa 933–1193UCSCWDR11 TPR domain

Gene Aliases

HGNC Name

WD repeat domain 11

HGNC Previous Symbol

BRWD2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_018117.12

p.E988K

c.2962G>A

Surrounding Variants

1 paper

NM_018117.12

p.E982Q

c.2944G>C

1 paper

NM_018117.12

p.Y994C

c.2981A>G

3 papers

NM_018117.12

p.K978Q

c.2932A>C

1 paper

NM_018117.12

p.R998T

c.2993G>C

1 paper

NM_018117.12

p.L1006_L1007insTA

c.3016_3020ins6

3 papers

NM_018117.12

p.D1011_R1012delFs

c.3033_3036del4

1 paper

NM_018117.12

p.T1010A

c.3028A>G

3 papers

NM_018117.12

p.D1011fs

c.3031_3032fs

1 paper

NM_018117.12

p.D1023V

c.3068A>T

1 paper

NM_018117.12

p.S1042S

c.3126G>A

1 paper

NM_018117.12

p.M1057V

c.3169A>G

1 paper

NM_018117.12

p.Q977_K978Splc

c.2931+1G>A