Varaico: Literature-Extracted Genetic Variants

Gene:DENND1A

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
1–12 of 84 variants
2 papers
NM_001352964.2
p.T72T
c.216A>G
2 papers
NM_001352964.2
p.L297L
c.889C>T
2 papers
NM_001352964.2
p.E393K
c.1177G>A
2 papers
NM_001352964.2
p.I509insFs
c.1527dupA
2 papers
NM_020946.2
p.A784D
c.2351C>A
2 papers
NM_001352964.2
p.L847P
c.2540T>C
1 paper
NM_001352964.2
p.G2S
c.4G>A
1 paper
NM_001352964.2
p.S3F
c.8C>T
1 paper
NM_001352964.2
p.T11T
c.33C>G
1 paper
NM_001352964.2
p.Y16C
c.47A>G
1 paper
NM_001352964.2
p.Q36Q
c.108A>G
1 paper
NM_001352964.2
p.P38P
c.114G>A
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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."