Varaico: Literature-Extracted Genetic Variants

DENND5A

100 papers

RefSeq Summary

This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts...

Pfam Domains

uDENNaa 51–113UCSCuDENN domain

DENNaa 178–366UCSCDENN (AEX-3) domain

dDENNaa 531–583UCSCdDENN domain

RUNaa 771–921UCSCRUN domain

PLATaa 932–1038UCSCPLAT/LH2 domain

RUNaa 1118–1257UCSCRUN domain

Gene Aliases

HGNC Name

DENN domain containing 5A

HGNC Previous Symbol

RAB6IP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_015213.4

p.R772*

c.2314C>T

Surrounding Variants

2 papers

NM_015213.4

p.K761_T762Splc

c.2283+1G>T

1 paper

NM_015213.4

p.F750V

c.2248T>G

1 paper

NM_015213.4

p.T746S

c.2237C>G

1 paper

NM_015213.4

p.T746S

c.2236A>T

2 papers

NM_015213.4

p.S728fs

c.2182_2183fs

2 papers

NM_015213.4

p.S728fs

c.2182_2183fs

2 papers

NM_015213.4

p.G727insFs

c.2180dupG

1 paper

NM_015213.4

p.R828_Q829insFs

c.2484_2485ins20

1 paper

NM_015213.4

p.Q829fs

c.2485_2486fs

1 paper

NM_015213.4

p.N713K

c.2139T>G

1 paper

NM_015213.4

p.N713K

c.2139T>A

3 papers

NM_015213.4

p.R710H

c.2129G>A