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.P181insFs

c.543dupG

Surrounding Variants

6 papers

NM_001160372.4

p.L178P

c.533T>C

1 paper

NM_001160372.4

p.K185delFs

c.554delT

1 paper

NM_001160372.4

p.G189insFs

c.565dupG

1 paper

NM_001160372.4

p.D191N

c.571G>A

5 papers

NM_001160372.4

p.L190_T192delFs

c.568_574del7

1 paper

NM_001160372.4

p.V158M

c.472G>A

1 paper

NM_001160372.4

p.S154delFs

c.461delG

1 paper

NM_001160372.4

p.T143M

c.428C>T

1 paper

NM_001160372.4

p.D140N

c.418G>A

1 paper

NM_001160372.4

p.N137N

c.411C>T

1 paper

NM_001160372.4

p.F134L

c.402C>G

1 paper

NM_001160372.4

p.F134L

c.402C>A