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.L668S

c.2003T>C

Surrounding Variants

2 papers

NM_019045.5

p.D669N

c.2005G>A

1 paper

NM_019045.5

p.K671R

c.2012A>G

1 paper

NM_019045.5

p.W685delFs

c.2054delG

2 papers

NM_019045.5

p.R733*

c.2197C>T

2 papers

NM_019045.5

p.S764F

c.2291C>T

2 papers

NM_019045.5

p.G782C

c.2344G>T

1 paper

NM_019045.5

p.W833C

c.2499G>C

1 paper

NM_019045.5

p.W833C

c.2499G>T

2 papers

NM_019045.5

p.H839R

c.2516A>G

2 papers

NM_019045.5

p.N840S

c.2519A>G

2 papers

NM_019045.5

p.D648G

c.1943A>G

1 paper

NM_019045.5

p.R638T

c.1913G>C