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

3 papers

NM_001160372.4

p.V1081I

c.3241G>A

Surrounding Variants

1 paper

NM_001160372.4

p.V1081_S1082insFs

c.3243_3244insT

1 paper

NM_001160372.4

p.H1078Q

c.3234C>A

1 paper

NM_001160372.4

p.L1077L

c.3229C>T

1 paper

NM_001160372.4

p.G1071S

c.3211G>A

1 paper

NM_001160372.4

p.D1092D

c.3276C>T

1 paper

NM_001160372.4

p.V1062M

c.3184G>A

1 paper

NM_001160372.4

p.A1059V

c.3176C>T

1 paper

NM_001160372.4

p.A1059T

c.3175G>A

1 paper

NM_001160372.4

p.S1054S

c.3162C>T

1 paper

NM_001160372.4

p.R1050W

c.3148C>T

3 papers

NM_001160372.4

p.V1041L

c.3121G>C

1 paper

NM_001160372.4

p.A1034T

c.3100G>A