Varaico: Literature-Extracted Genetic Variants

Gene:TEPSIN
Variant:p.F471I

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
1 paper
NM_144679.3
p.F471I
c.1411T>A
Surrounding Variants
1 paper
NM_144679.3
p.A472P
c.1414G>C
1 paper
NM_144679.3
p.M474K
c.1421T>A
1 paper
NM_144679.3
p.S518A
c.1552T>G
1 paper
NM_144679.3
p.A519D
c.1556C>A
1 paper
NM_001363764.2
p.P435T
c.1303C>A
1 paper
NM_001363764.2
p.C420insFs
c.1258_1259dupTG
2 papers
NM_144679.3
p.D189N
c.565G>A
NM_001363764.2
p.D257N
c.769G>A
2 papers
NM_001363764.2
p.H226Y
c.676C>T
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
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