Varaico: Literature-Extracted Genetic Variants

Gene:DENND4A
Variant:p.S122N

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.S122N
c.365G>A
Surrounding Variants
1 paper
NM_001320835.1
p.S167T
c.500G>C
1 paper
NM_001320835.1
p.K181E
c.541A>G
1 paper
NM_001320835.1
p.G80R
c.238G>C
1 paper
NM_001320835.1
p.Q61K
c.181C>A
1 paper
NM_001320835.1
p.P41L
c.122C>T
1 paper
NM_001320835.1
p.V21F
c.61G>T
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