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

3 papers

NM_001160372.4

p.P570insFs

c.1708dupC

Surrounding Variants

14 papers

NM_001160372.4

p.P570S

c.1708C>T

1 paper

NM_001160372.4

p.I572S

c.1715T>G

2 papers

NM_001160372.4

p.S569Fs

c.1705delinsCCFs

5 papers

NM_001160372.4

p.K568_S574del7

c.1702_1721del21

2 papers

NM_001160372.4

p.N564N

c.1692C>T

1 paper

NM_001160372.4

p.N547H

c.1639A>C

1 paper

NM_001160372.4

p.L545L

c.1633C>T

1 paper

NM_001160372.4

p.R541Splc

c.1623-1102A>G

1 paper

NM_001160372.4

p.D590Splc

c.1768+3617C>T

1 paper

NM_001160372.4

p.E600D

c.1800A>T

1 paper

NM_001160372.4

p.E600D

c.1800A>C

1 paper

NM_001160372.4

p.V601F

c.1801G>T