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

4 papers

NM_001160372.4

p.R377*

c.1129C>T

Surrounding Variants

1 paper

NM_001160372.4

p.Q378*

c.1132C>T

1 paper

NM_001160372.4

p.N370S

c.1109A>G

1 paper

NM_001160372.4

p.N370_A371insA

c.1108_1112ins3

1 paper

NM_001160372.4

p.E363G

c.1088A>G

1 paper

NM_001374682.1

p.R367W

c.1099C>T

1 paper

NM_001160372.4

p.V354V

c.1062C>A

1 paper

NM_001160372.4

p.R353H

c.1058G>A

2 papers

NM_001160372.4

p.R353C

c.1057C>T

1 paper

NM_001160372.4

p.A351A

c.1053T>A

1 paper

NM_001160372.4

p.C348Y

c.1043G>A

1 paper

NM_001160372.4

p.V342E

c.1025T>A

1 paper

NM_001160372.4

p.P320H

c.959C>A