Varaico: Literature-Extracted Genetic Variants

WDR44

45 papers

RefSeq Summary

This gene encodes a protein that interacts with the small GTPase rab11. A similar protein in rat binds the GTP-containing active form of rab11. This protein may play a role in endosome recycling. Alte...

Pfam Domains

WD40aa 500–539UCSCWD domain, G-beta repeat

WD40aa 597–634UCSCWD domain, G-beta repeat

WD40aa 638–676UCSCWD domain, G-beta repeat

WD40aa 775–814UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 44

HGNC Alias Symbols

DKFZp686L20145; RPH11; RAB11BP; SYM-4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_019045.5

p.S344A

c.1030T>G

Surrounding Variants

1 paper

NM_019045.5

p.S342A

c.1024T>G

1 paper

NM_019045.5

p.S290R

c.870C>A

1 paper

NM_019045.5

p.S290R

c.870C>G

1 paper

NM_019045.5

p.S290R

c.868A>C

1 paper

NM_019045.5

p.K360E

c.1078A>G

1 paper

NM_019045.5

p.E265K

c.793G>A

1 paper

NM_019045.5

p.E263K

c.787G>A

1 paper

NM_019045.5

p.P243S

c.727C>T

1 paper

NM_019045.5

p.R235C

c.703C>T

1 paper

NM_019045.5

p.D223H

c.667G>C

1 paper

NM_019045.5

p.A205V

c.614C>T

1 paper

NM_019045.5

p.L169V

c.505C>G