Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC12
Variant:p.E462V

TRAPPC12

84 papers

Pfam Domains

TPR_6aa 546–577UCSCTetratricopeptide repeat
TPR_19aa 630–691UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

trafficking protein particle complex subunit 12

HGNC Previous Symbol

TTC15

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016030.6
p.E462V
c.1385A>T
Surrounding Variants
1 paper
NM_016030.6
p.Y461Y
c.1383C>T
1 paper
NM_016030.6
p.R471L
c.1412G>T
1 paper
NM_016030.6
p.G452G
c.1356A>G
1 paper
NM_016030.6
p.G452R
c.1354G>A
1 paper
NM_016030.6
p.G452R
c.1354G>C
2 papers
NM_016030.6
p.Q426_L427Splc
c.1279-2A>G
1 paper
NM_016030.6
p.T421M
c.1262C>T
1 paper
NM_016030.6
p.T418P
c.1252A>C
2 papers
NM_016030.6
p.G415E
c.1244G>A
1 paper
NM_016030.6
p.S414S
c.1242C>T
1 paper
NM_016030.6
p.W393*
c.1179G>A
1 paper
NM_016030.6
p.W393*
c.1178G>A
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