Varaico: Literature-Extracted Genetic Variants

Gene:TRAPPC11
Variant:p.E189*

TRAPPC11

139 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage...

Pfam Domains

Foie-gras_1aa 263–522UCSCFoie gras liver health family 1
Gryzun-likeaa 1036–1095UCSCGryzun, putative Golgi trafficking

Gene Aliases

HGNC Name

trafficking protein particle complex subunit 11

HGNC Previous Symbol

C4orf41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021942.6
p.E189*
c.565G>T
Surrounding Variants
1 paper
NM_021942.6
p.Y200_I204del0
c.598_612del15
1 paper
NM_021942.6
p.H210D
c.628C>G
1 paper
NM_021942.6
p.H219_Q220insC
c.655_659ins3
1 paper
NM_021942.6
p.Q220_L221Splc
c.660+9T>C
5 papers
NM_021942.6
p.Q220_L221Splc
c.661-1G>T
1 paper
NM_021942.6
p.Y251H
c.751T>C
1 paper
NM_021942.6
p.L257delFs
c.771delG
1 paper
NM_021942.6
p.K277E
c.829A>G
1 paper
NM_021942.6
p.K277_I278Splc
c.832-1G>A
1 paper
NM_021942.6
p.Q284*
c.850C>T
3 papers
NM_021942.6
p.Q284P
c.851A>C
2 papers
NM_021942.6
p.A309A
c.927A>G
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