Varaico: Literature-Extracted Genetic Variants

Gene:DENND1B
Variant:p.M597V

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
3 papers
NM_001195215.2
p.M597V
c.1789A>G
Surrounding Variants
4 papers
NM_001195215.2
p.G563S
c.1687G>A
1 paper
NM_001195215.2
p.S562L
c.1685C>T
1 paper
NM_001195215.2
p.Y561Y
c.1683C>T
1 paper
NM_001195215.2
p.R556T
c.1667G>C
1 paper
NM_001195215.2
p.P644S
c.1930C>T
1 paper
NM_001195215.2
p.R648K
c.1943G>A
1 paper
NM_001195215.2
p.K509_K513delFs
c.1526_1538del13
1 paper
NM_001195215.2
p.H754L
c.2261A>T
1 paper
NM_001195215.2
p.M755delFs
c.2263_2264delAT
1 paper
NM_001195215.2
p.G772*
c.2314G>T
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