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

5 papers

NM_015213.4

p.R849delFs

c.2547delC

Surrounding Variants

6 papers

NM_015213.4

p.K850fs

c.2548_2549fs

2 papers

NM_015213.4

p.R848C

c.2542C>T

1 paper

NM_015213.4

p.L864Q

c.2591T>A

1 paper

NM_015213.4

p.I871M

c.2613C>G

1 paper

NM_015213.4

p.K895fs

c.2683_2684fs

2 papers

NM_015213.4

p.H900R

c.2699A>G

1 paper

NM_015213.4

p.S906*

c.2717C>G

1 paper

NM_015213.4

p.S906*

c.2717C>A

1 paper

NM_015213.4

p.K912Splc

c.2735+28C>T

1 paper

NM_015213.4

p.Q829fs

c.2485_2486fs

1 paper

NM_015213.4

p.R828_Q829insFs

c.2484_2485ins20

1 paper

NM_015213.4

p.K912Splc

c.2736-30G>T