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

1–12 of 235 variants

14 papers

NM_001160372.4

p.P570S

c.1708C>T

9 papers

NM_001160372.4

p.E689*

c.2065G>T

7 papers

NM_001160372.4

p.P712S

c.2134C>T

6 papers

NM_001160372.4

p.L178P

c.533T>C

5 papers

NM_001160372.4

p.L190_T192delFs

c.568_574del7

5 papers

NM_001160372.4

p.K568_S574del7

c.1702_1721del21

5 papers

NM_001160372.4

p.L805_Q806insFs

c.2415_2416insC

4 papers

NM_001160372.4

p.R377*

c.1129C>T

3 papers

NM_001160372.4

p.T511M

c.1532C>T

3 papers

NM_001160372.4

p.P570insFs

c.1708dupC

3 papers

NM_001160372.4

p.V1041L

c.3121G>C

3 papers

NM_001160372.4

p.V1081I

c.3241G>A