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_001321646.2

p.T613I

c.1838C>T

Surrounding Variants

1 paper

NM_001160372.4

p.G624R

c.1870G>C

1 paper

NM_001160372.4

p.G624R

c.1870G>A

1 paper

NM_001160372.4

p.A633G

c.1898C>G

1 paper

NM_001160372.4

p.S640P

c.1918T>C

1 paper

NM_001160372.4

p.L642L

c.1926G>T

2 papers

NM_001160372.4

p.Y643fs

c.1927_1928fs

2 papers

NM_001160372.4

p.Y643delFs

c.1928delT

1 paper

NM_001160372.4

p.L642_L647delFs

c.1926_1941del16

1 paper

NM_001160372.4

p.T653M

c.1958C>T

1 paper

NM_001160372.4

p.V659M

c.1975G>A

1 paper

NM_001160372.4

p.G661Splc

c.1981+3A>G

1 paper

NM_001160372.4

p.V601F

c.1801G>T