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

14 papers

NM_018117.12

p.A435T

c.1303G>A

Surrounding Variants

5 papers

NM_018117.12

p.I436V

c.1306A>G

1 paper

NM_018117.12

p.Q433R

c.1298A>G

1 paper

NM_018117.12

p.Q433fs

c.1297_1298fs

1 paper

NM_018117.12

p.G438V

c.1313G>T

2 papers

NM_018117.12

p.R448W

c.1342C>T

5 papers

NM_018117.12

p.R448Q

c.1343G>A

3 papers

NM_018117.12

p.H451R

c.1352A>G

1 paper

NM_018117.12

p.T457M

c.1370C>T

1 paper

NM_018117.12

p.A465V

c.1394C>T

2 papers

NM_018117.12

p.P475P

c.1425G>A

1 paper

NM_018117.12

p.N480delFs

c.1439delA

1 paper

NM_018117.12

p.N480fs

c.1438_1439fs