Varaico: Literature-Extracted Genetic Variants

Gene:DENND4A
Variant:p.G238C

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
1 paper
NM_001320835.1
p.G238C
c.712G>T
Surrounding Variants
1 paper
NM_001320835.1
p.S248N
c.743G>A
1 paper
NM_001320835.1
p.D220Y
c.658G>T
1 paper
NM_001320835.1
p.G299E
c.896G>A
1 paper
NM_001320835.1
p.F322fs
c.964_965fs
1 paper
NM_001320835.1
p.D323insFs
c.967_968insT
1 paper
NM_001320835.1
p.D323fs
c.967_968fs
1 paper
NM_001320835.1
p.G390C
c.1168G>T
1 paper
NM_001320835.1
p.L408L
c.1222C>T
1 paper
NM_001320835.1
p.S422P
c.1264T>C
1 paper
NM_001320835.1
p.I439S
c.1316T>G
1 paper
NM_001320835.1
p.L454Q
c.1361T>A
1 paper
NM_001320835.1
p.I494V
c.1480A>G
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