Varaico: Literature-Extracted Genetic Variants

Gene:DENND1B
Variant:p.K50M

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
2 papers
NM_001195215.2
p.K50M
c.149A>T
Surrounding Variants
1 paper
NM_001195215.2
p.Q42_E43Splc
c.127-65G>A
1 paper
NM_001195215.2
p.S61S
c.183T>A
1 paper
NM_001195215.2
p.D75G
c.224A>G
1 paper
NM_001195215.2
p.C85R
c.253T>C
1 paper
NM_001195215.2
p.G90R
c.268G>C
1 paper
NM_001195215.2
p.G90R
c.268G>A
1 paper
NM_001195215.2
p.T92A
c.274A>G
1 paper
NM_001195215.2
p.I97N
c.290T>A
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