Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC8
Variant:p.D699N

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.D699N
c.2095G>A
Surrounding Variants
1 paper
NM_014939.5
p.V696G
c.2087T>G
1 paper
NM_014939.5
p.A693S
c.2077G>T
1 paper
NM_014939.5
p.A692V
c.2075C>T
1 paper
NM_014939.5
p.S739G
c.2215A>G
1 paper
NM_014939.5
p.A749T
c.2245G>A
1 paper
NM_014939.5
p.P754S
c.2260C>T
2 papers
NM_014939.5
p.E758*
c.2272G>T
1 paper
NM_014939.5
p.P782A
c.2344C>G
1 paper
NM_014939.5
p.R683S
c.2049A>T
1 paper
NM_014939.5
p.R683S
c.2049A>C
1 paper
NM_014939.5
p.G680insFs
c.2038_2039insT
1 paper
NM_014939.5
p.R609C
c.1825C>T
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