Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC8
Variant:p.E128A

TRAPPC8

62 papers

Pfam Domains

TRAPPC-Trs85aa 12–517UCSCER-Golgi trafficking TRAPP I complex 85 kDa subunit
Ig_TPPC8_1staa 699–926UCSCTPPC8 first Ig-like domain
Ig_TPPC8_2ndaa 927–1067UCSCTPPC8 second Ig-like domain
Ig_TPPC8_3rdaa 1070–1264UCSCTPPC8 third Ig-like domain
Ig_TPPC8_Caa 1309–1411UCSCTPPC8 C-terminal Ig-like domain

Gene Aliases

HGNC Name

trafficking protein particle complex subunit 8

HGNC Previous Symbol

KIAA1012

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014939.5
p.E128A
c.383A>C
Surrounding Variants
1 paper
NM_014939.5
p.E128K
c.382G>A
1 paper
NM_014939.5
p.A118Splc
c.353-1G>T
1 paper
NM_014939.5
p.L142Q
c.425T>A
2 papers
NM_014939.5
p.L146I
c.436T>A
1 paper
NM_014939.5
p.R172Q
c.515G>A
1 paper
NM_014939.5
p.P187A
c.559C>G
1 paper
NM_014939.5
p.E204fs
c.610_611fs
1 paper
NM_014939.5
p.Q250L
c.749A>T
1 paper
NM_014939.5
p.N270S
c.809A>G
1 paper
NM_014939.5
p.E286*
c.856G>T
1 paper
NM_014939.5
p.E286K
c.856G>A
1 paper
NM_014939.5
p.H298Y
c.892C>T
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