Varaico: Literature-Extracted Genetic Variants

Gene:DENND4A
Variant:p.C1497W

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.C1497W
c.4491T>G
Surrounding Variants
1 paper
NM_001320835.1
p.P1612H
c.4835C>A
1 paper
NM_001320835.1
p.N1614D
c.4840A>G
1 paper
NM_001320835.1
p.R1615I
c.4844G>T
1 paper
NM_001320835.1
p.G1660R
c.4978G>C
1 paper
NM_001320835.1
p.G1660R
c.4978G>A
1 paper
NM_001320835.1
p.S1673N
c.5018G>A
1 paper
NM_001320835.1
p.S1738C
c.5213C>G
1 paper
NM_001320835.1
p.S1746L
c.5237C>T
1 paper
NM_001320835.1
p.G1406*
c.4216G>T
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