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

1 paper

NM_019045.5

p.V46V

c.138T>A

Surrounding Variants

1 paper

NM_019045.5

p.E40K

c.118G>A

1 paper

NM_019045.5

p.D58E

c.174T>A

1 paper

NM_019045.5

p.S60S

c.180T>C

1 paper

NM_019045.5

p.K62_I63Splc

c.186+15A>G

1 paper

NM_019045.5

p.E69D

c.207G>C

1 paper

NM_019045.5

p.E69D

c.207G>T

1 paper

NM_019045.5

p.S71R

c.211A>C

1 paper

NM_019045.5

p.S71R

c.213T>A

1 paper

NM_019045.5

p.S71R

c.213T>G

1 paper

NM_019045.5

p.K73delFs

c.217delA

1 paper

NM_019045.5

p.A95A

c.285C>G

1 paper

NM_019045.5

p.S105S

c.315C>T