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.S753delFs

c.2258delG

Surrounding Variants

1 paper

NM_001160372.4

p.E750*

c.2248G>T

2 papers

NM_001160372.4

p.T758delFs

c.2273delG

1 paper

NM_001160372.4

p.V722I

c.2164G>A

7 papers

NM_001160372.4

p.P712S

c.2134C>T

1 paper

NM_001160372.4

p.T701delFs

c.2103delG

1 paper

NM_001160372.4

p.G680_V690del11

c.2038_2069del33

9 papers

NM_001160372.4

p.E689*

c.2065G>T

1 paper

NM_001160372.4

p.T683_S686del4

c.2047_2057del12

1 paper

NM_001160372.4

p.T664T

c.1992C>T

1 paper

NM_001160372.4

p.Y662Y

c.1986C>T