Varaico: Literature-Extracted Genetic Variants

Gene:DENND4A
Variant:p.R865C

DENND4A

50 papers

RefSeq Summary

This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interf...

Pfam Domains

MABPaa 42–203UCSCMABP domain
uDENNaa 210–275UCSCuDENN domain
DENNaa 308–492UCSCDENN (AEX-3) domain
dDENNaa 599–648UCSCdDENN domain

Gene Aliases

HGNC Name

DENN domain containing 4A

HGNC Previous Symbol

MYCPBP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001320835.1
p.R865C
c.2593C>T
Surrounding Variants
1 paper
NM_001320835.1
p.W860*
c.2580G>A
1 paper
NM_001320835.1
p.W860*
c.2579G>A
1 paper
NM_001320835.1
p.V877I
c.2629G>A
1 paper
NM_001320835.1
p.V881V
c.2643A>G
1 paper
NM_001320835.1
p.H891Y
c.2671C>T
1 paper
NM_001320835.1
p.Y850delFs
c.2549delT
1 paper
NM_001320835.1
p.Y850fs
c.2548_2549fs
1 paper
NM_001320835.1
p.V827M
c.2479G>A
1 paper
NM_001320835.1
p.M817V
c.2449A>G
1 paper
NM_001320835.1
p.V811A
c.2432T>C
1 paper
NM_001320835.1
p.T792T
c.2376A>G
1 paper
NM_001320835.1
p.Q741_E742Splc
c.2224-4C>T
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