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

2 papers

NM_015213.4

p.S204insFs

c.611_612insG

Surrounding Variants

2 papers

NM_015213.4

p.K205*

c.613A>T

1 paper

NM_015213.4

p.Y202H

c.604T>C

2 papers

NM_015213.4

p.C208Y

c.623G>A

1 paper

NM_015213.4

p.S214P

c.640T>C

1 paper

NM_015213.4

p.R190C

c.568C>T

1 paper

NM_015213.4

p.L188L

c.564G>T

1 paper

NM_015213.4

p.S221S

c.663C>T

2 papers

NM_015213.4

p.E224Q

c.670G>C

1 paper

NM_015213.4

p.H227R

c.680A>G

1 paper

NM_015213.4

p.A229T

c.685G>A

1 paper

NM_015213.4

p.Q174L

c.521A>T

4 papers

NM_015213.4

p.D173delFs

c.517_518delTC