Varaico: Literature-Extracted Genetic Variants

Gene:TEPSIN

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
1–12 of 28 variants
2 papers
NM_001363764.2
p.H226Y
c.676C>T
1 paper
NM_001363764.2
p.M1ins1
c.2_3insAAA
1 paper
NM_001363764.2
p.F13L
c.37T>C
1 paper
NM_001363764.2
p.F13L
c.39T>G
1 paper
NM_001363764.2
p.F13L
c.39T>A
1 paper
NM_001363764.2
p.L14L
c.40C>T
1 paper
NM_001363764.2
p.L20F
c.58C>T
1 paper
NM_001363764.2
p.S59I
c.176G>T
1 paper
NM_001363764.2
p.K71N
c.213G>T
1 paper
NM_001363764.2
p.K71N
c.213G>C
1 paper
NM_001363764.2
p.H112Y
c.334C>T
1 paper
NM_001363764.2
p.R121C
c.361C>T
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