Varaico: Literature-Extracted Genetic Variants

Gene:TEPSIN
Variant:p.H226Y

TEPSIN

24 papers

Pfam Domains

ENTHaa 19–137UCSCENTH domain
TVHS-likeaa 312–416UCSCTepsin VHS/ENTH-like domain

Gene Aliases

HGNC Name

TEPSIN adaptor related protein complex 4 accessory protein

HGNC Previous Symbols

C17orf56; ENTHD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001363764.2
p.H226Y
c.676C>T
Surrounding Variants
1 paper
NM_001363764.2
p.G213C
c.637G>T
1 paper
NM_001363764.2
p.G213S
c.637G>A
1 paper
NM_001363764.2
p.R212Q
c.635G>A
1 paper
NM_001363764.2
p.A189T
c.565G>A
2 papers
NM_144679.3
p.D189N
c.565G>A
NM_001363764.2
p.D257N
c.769G>A
1 paper
NM_001363764.2
p.G146V
c.437G>T
1 paper
NM_001363764.2
p.S129C
c.385A>T
1 paper
NM_001363764.2
p.Q125_D126Splc
c.376-1G>C
1 paper
NM_001363764.2
p.R121C
c.361C>T
1 paper
NM_001363764.2
p.H112Y
c.334C>T
1 paper
NM_001363764.2
p.C420insFs
c.1258_1259dupTG
1 paper
NM_001363764.2
p.P435T
c.1303C>A
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."