Varaico: Literature-Extracted Genetic Variants

Gene:DENND5A

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
1–12 of 170 variants
6 papers
NM_015213.4
p.D173fs
c.517_518fs
6 papers
NM_015213.4
p.D541G
c.1622A>G
6 papers
NM_015213.4
p.K850fs
c.2548_2549fs
5 papers
NM_015213.4
p.R849delFs
c.2547delC
4 papers
NM_015213.4
p.D173delFs
c.517_518delTC
4 papers
NM_015213.4
p.R772*
c.2314C>T
3 papers
NM_015213.4
p.R710H
c.2129G>A
3 papers
NM_015213.4
p.R1032T
c.3095G>C
3 papers
NM_015213.4
p.T1039N
c.3116C>A
3 papers
NM_015213.4
p.V1202fs
c.3604_3605fs
3 papers
NM_015213.4
p.V1202delFs
c.3605delA
3 papers
NM_015213.4
p.G1216D
c.3647G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."