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.P530S

c.1588C>T

Surrounding Variants

1 paper

NM_001160372.4

p.P531T

c.1591C>A

1 paper

NM_001160372.4

p.T535S

c.1603A>T

1 paper

NM_001160372.4

p.T535S

c.1604C>G

1 paper

NM_001321646.2

p.P515L

c.1544C>T

1 paper

NM_001160372.4

p.P515L

c.1544C>T

NM_001321646.2

p.P506L

c.1517C>T

3 papers

NM_001160372.4

p.T511M

c.1532C>T

1 paper

NM_001160372.4

p.L507L

c.1521A>G

1 paper

NM_001160372.4

p.R541Splc

c.1623-1102A>G