Varaico: Literature-Extracted Genetic Variants

TRAPPC9

144 papers

RefSeq Summary

This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcrip...

Pfam Domains

TRAPPC9-Trs120aa 158–263UCSCTrs120/TRAPPC9, N-terminal domain

TPR_TRAPPC9-Trs120aa 342–514UCSCTrs120/TRAPPC9 TPR

Ig_TRAPPC9-Trs120_1staa 540–671UCSCTrs120/TRAPPC9, first Ig-like domain

Ig_TRAPPC9-Trs120_2ndaa 694–885UCSCTrs120/TRAPPC9, second Ig-like domain

Ig_TRAPPC9-Trs120_3rdaa 882–1012UCSCTrs120/TRAPPC9, third Ig-like domain

Ig_TRAPPC9-Trs120_4thaa 1016–1144UCSCTrs120/TRAPPC9, fourth Ig-like domain

Gene Aliases

HGNC Name

trafficking protein particle complex subunit 9

HGNC Alias Symbols

IKBKBBP; NIBP; KIAA1882; T1; TRS120; MRT13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001160372.4

p.T73I

c.218C>T

Surrounding Variants

1 paper

NM_001160372.4

p.Q72L

c.215A>T

1 paper

NM_001160372.4

p.D70G

c.209A>G

1 paper

NM_001160372.4

p.G69G

c.207T>C

2 papers

NM_001160372.4

p.G69A

c.206G>C

1 paper

NM_001160372.4

p.V78E

c.233T>A

1 paper

NM_001160372.4

p.L80F

c.238C>T

1 paper

NM_001160372.4

p.L80P

c.239T>C

1 paper

NM_001160372.4

p.Q72_L80del9

c.214_239del27

1 paper

NM_001160372.4

p.I81delFs

c.241_242delAT

1 paper

NM_001160372.4

p.I83T

c.248T>C

1 paper

NM_001160372.4

p.R56_P62ins2

c.166_186dup21

1 paper

NM_001160372.4

p.C86*

c.258C>A