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

1–12 of 239 variants

14 papers

NM_018117.12

p.A435T

c.1303G>A

10 papers

NM_018117.12

p.F1150L

c.3448T>C

10 papers

NM_018117.12

p.F1150L

c.3450T>A

10 papers

NM_018117.12

p.F1150L

c.3450T>G

8 papers

NM_018117.12

p.H690Q

c.2070T>A

8 papers

NM_018117.12

p.H690Q

c.2070T>G

6 papers

NM_018117.12

p.R395W

c.1183C>T

6 papers

NM_018117.12

p.G1191S

c.3571G>A

5 papers

NM_018117.12

p.I436V

c.1306A>G

5 papers

NM_018117.12

p.R448Q

c.1343G>A

5 papers

NM_018117.12

p.E988K

c.2962G>A

4 papers

NM_018117.12

p.V356I

c.1066G>A