Varaico: Literature-Extracted Genetic Variants

Gene:DENND1A
Variant:p.P38P

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
1 paper
NM_001352964.2
p.P38P
c.114G>A
Surrounding Variants
1 paper
NM_001352964.2
p.Q36Q
c.108A>G
1 paper
NM_001352964.2
p.Q44_E45Splc
c.132+4C>T
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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."