Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC10
Variant:p.E1217D

TRAPPC10

116 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involv...

Pfam Domains

TRAPPC10_1staa 15–328UCSCTrafficking protein particle complex subunit 10-like, N-terminal
Ig_TRAPPC10aa 784–896UCSCTRAPPC10-like, immunoglobulin-like
TRAPPC10aa 1018–1246UCSCTrafficking protein particle complex subunit 10, TRAPPC10

Gene Aliases

HGNC Name

trafficking protein particle complex subunit 10

HGNC Alias Symbols

EHOC-1; TRS130

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003274.5
p.E1217D
c.3651G>T
Surrounding Variants
1 paper
NM_003274.5
p.E1217D
c.3651G>C
1 paper
NM_003274.5
p.G1220delFs
c.3660delC
2 papers
NM_003274.5
p.S1206N
c.3617G>A
1 paper
NM_003274.5
p.P1230L
c.3689C>T
1 paper
NM_003274.5
p.G1232S
c.3694G>A
1 paper
NM_003274.5
p.D1196V
c.3587A>T
1 paper
NM_003274.5
p.A1180S
c.3538G>T
1 paper
NM_003274.5
p.L1157P
c.3470T>C
1 paper
NM_003274.5
p.Y1156C
c.3467A>G
1 paper
NM_003274.5
p.G1131fs
c.3391_3392fs
2 papers
NM_003274.5
p.G1131fs
c.3391_3392fs
3 papers
NM_003274.5
p.G1131delFs
c.3392delG
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