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

8 papers

NM_018117.12

p.H690Q

c.2070T>A

Surrounding Variants

8 papers

NM_018117.12

p.H690Q

c.2070T>G

1 paper

NM_018117.12

p.D700N

c.2098G>A

3 papers

NM_018117.12

p.R703Q

c.2108G>A

1 paper

NM_018117.12

p.N672S

c.2015A>G

1 paper

NM_018117.12

p.N672Y

c.2014A>T

1 paper

NM_018117.12

p.E653K

c.1957G>A

1 paper

NM_018117.12

p.Q641L

c.1922A>T

1 paper

NM_018117.12

p.A633A

c.1899A>T

1 paper

NM_018117.12

p.K630_A637del8

c.1888_1910del24

1 paper

NM_018117.12

p.L624W

c.1871T>G

1 paper

NM_018117.12

p.H622Y

c.1864C>T

1 paper

NM_018117.12

p.S621S

c.1863T>A