Varaico: Literature-Extracted Genetic Variants

Gene:DENND1B
Variant:p.T5T

DENND1B

68 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 DENND1B, function as guanine nucleotide exchan...

Pfam Domains

uDENNaa 29–88UCSCuDENN domain
DENNaa 91–291UCSCDENN (AEX-3) domain
dDENNaa 355–405UCSCdDENN domain

Gene Aliases

HGNC Name

DENN domain containing 1B

HGNC Previous Symbols

FAM31B; C1orf218

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001195215.2
p.T5T
c.15C>A
Surrounding Variants
1 paper
NM_001195215.2
p.T5I
c.14C>T
2 papers
NM_001195215.2
p.T5insFs
c.14dupC
1 paper
NM_001195215.2
p.A7fs
c.19_20fs
1 paper
NM_001195215.2
p.A7V
c.20C>T
1 paper
NM_001195215.2
p.N26Y
c.76A>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."