Varaico: Literature-Extracted Genetic Variants

Gene:DENND1A
Variant:p.A784D

DENND1A

65 papers

RefSeq Summary

Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchan...

Pfam Domains

uDENNaa 31–90UCSCuDENN domain
DENNaa 92–273UCSCDENN (AEX-3) domain
dDENNaa 337–388UCSCdDENN domain

Gene Aliases

HGNC Name

DENN domain containing 1A

HGNC Previous Symbol

KIAA1608

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_020946.2
p.A784D
c.2351C>A
NM_001352964.2
p.A845D
c.2534C>A
Surrounding Variants
2 papers
NM_001352964.2
p.L847P
c.2540T>C
1 paper
NM_001352964.2
p.T838T
c.2514G>T
1 paper
NM_001352964.2
p.Q827*
c.2479C>T
1 paper
NM_001352964.2
p.T870S
c.2609C>G
1 paper
NM_001352964.2
p.L799L
c.2395C>T
1 paper
NM_001352964.2
p.V795F
c.2383G>T
1 paper
NM_001352964.2
p.S929F
c.2786C>T
1 paper
NM_001352964.2
p.M962V
c.2884A>G
1 paper
NM_001352964.2
p.A994D
c.2981C>A
1 paper
NM_001352964.2
p.E996K
c.2986G>A
1 paper
NM_001352964.2
p.G678G
c.2034C>A
1 paper
NM_001352964.2
p.P647L
c.1940C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."