Varaico: Literature-Extracted Genetic Variants

Gene:DENND1A
Variant:p.Q366_F367Splc

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.Q366_F367Splc
c.1098+41C>A
Surrounding Variants
1 paper
NM_001352964.2
p.R352R
c.1056G>A
1 paper
NM_001352964.2
p.G349R
c.1045G>C
1 paper
NM_001352964.2
p.G349R
c.1045G>A
1 paper
NM_001352964.2
p.D369D
c.1107T>C
1 paper
NM_001352964.2
p.G380D
c.1139G>A
1 paper
NM_001352964.2
p.D383H
c.1147G>C
2 papers
NM_001352964.2
p.E393K
c.1177G>A
1 paper
NM_001352964.2
p.R409W
c.1225C>T
1 paper
NM_001352964.2
p.R409Q
c.1226G>A
1 paper
NM_001352964.2
p.R409_K410Splc
c.1227+1G>A
1 paper
NM_001352964.2
p.R409_K410Splc
c.1228-4A>G
1 paper
NM_001352964.2
p.M427I
c.1281G>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."