Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC8
Variant:p.C1233R

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.C1233R
c.3697T>C
Surrounding Variants
1 paper
NM_014939.5
p.E1206*
c.3616G>T
1 paper
NM_014939.5
p.V1248I
c.3742G>A
1 paper
NM_014939.5
p.E1186*
c.3556G>T
1 paper
NM_014939.5
p.I1268V
c.3802A>G
1 paper
NM_014939.5
p.Y1176C
c.3527A>G
1 paper
NM_014939.5
p.E1152*
c.3454G>T
2 papers
NM_014939.5
p.T1146A
c.3436A>G
1 paper
NM_014939.5
p.R1082W
c.3244C>T
1 paper
NM_014939.5
p.L1079F
c.3237A>T
1 paper
NM_014939.5
p.L1079F
c.3237A>C
2 papers
NM_014939.5
p.R1077Q
c.3230G>A
1 paper
NM_014939.5
p.R1063Splc
c.3189-6C>T
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