Varaico: Literature-Extracted Genetic Variants

Gene:DENND4A
Variant:p.K500R

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.K500R
c.1499A>G
Surrounding Variants
1 paper
NM_001320835.1
p.Q525K
c.1573C>A
1 paper
NM_001320835.1
p.Q496Splc
c.1487+2405T>C
1 paper
NM_001320835.1
p.S579L
c.1736C>T
1 paper
NM_001320835.1
p.I494V
c.1480A>G
1 paper
NM_001320835.1
p.L454Q
c.1361T>A
1 paper
NM_001320835.1
p.I439S
c.1316T>G
1 paper
NM_001320835.1
p.S422P
c.1264T>C
1 paper
NM_001320835.1
p.L408L
c.1222C>T
1 paper
NM_001320835.1
p.G390C
c.1168G>T
1 paper
NM_001320835.1
p.S607R
c.1819A>C
1 paper
NM_001320835.1
p.S607R
c.1821C>G
1 paper
NM_001320835.1
p.S607R
c.1821C>A
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