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.F32L

c.94T>C

Surrounding Variants

1 paper

NM_001160372.4

p.G24_S27del0

c.72_80del9

1 paper

NM_001160372.4

p.E28fs

c.82_83fs

1 paper

NM_001160372.4

p.S27C

c.80C>G

1 paper

NM_001160372.4

p.R37K

c.110G>A

2 papers

NM_001160372.4

p.V23V

c.69G>A

1 paper

NM_001160372.4

p.V41A

c.122T>C

1 paper

NM_001160372.4

p.L16L

c.46C>T

1 paper

NM_001160372.4

p.A10delFs

c.29delG

1 paper

NM_001160372.4

p.Y54*

c.162C>A

1 paper

NM_001160372.4

p.R56C

c.166C>T

1 paper

NM_001160372.4

p.R56H

c.167G>A

1 paper

NM_001160372.4

p.Y6F

c.17A>T