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

1 paper

NM_018117.12

p.L887_Q888del1

c.2660_2662delTCC

Surrounding Variants

1 paper

NM_018117.12

p.L887_Q888del2

c.2659_2663del6

1 paper

NM_018117.12

p.K884fs

c.2650_2651fs

1 paper

NM_018117.12

p.K884_N885delFs

c.2651_2654del4

1 paper

NM_018117.12

p.E882Q

c.2644G>C

1 paper

NM_018117.12

p.L891W

c.2672T>G

2 papers

NM_018117.12

p.Y877N

c.2629T>A

1 paper

NM_018117.12

p.L855L

c.2563T>C

1 paper

NM_018117.12

p.E839Splc

c.2516-3T>C

1 paper

NM_018117.12

p.N896Splc

c.2688-5C>G

1 paper

NM_018117.12

p.R918Splc

c.2754-2A>G

1 paper

NM_018117.12

p.D922N

c.2764G>A

1 paper

NM_018117.12

p.A945D

c.2834C>A