Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.G355D

CIITA

453 papers

RefSeq Summary

This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regul...

Pfam Domains

NACHTaa 415–586UCSCNACHT domain
LRR_6aa 1014–1037UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

class II major histocompatibility complex transactivator

HGNC Previous Symbol

MHC2TA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000246.4
p.G355D
c.1064G>A
Surrounding Variants
1 paper
NM_000246.4
p.A354V
c.1061C>T
1 paper
NM_000246.4
p.G350_L360delFs
c.1050_1078del29
1 paper
NM_000246.4
p.G350R
c.1048G>C
1 paper
NM_000246.4
p.Y349C
c.1046A>G
3 papers
NM_000246.4
p.T348M
c.1043C>T
1 paper
NM_001286402.1
p.R344L
c.1031G>T
1 paper
NM_000246.4
p.Q367H
c.1101G>C
1 paper
NM_000246.4
p.Q367H
c.1101G>T
1 paper
NM_000246.4
p.Y342delFs
c.1025delA
1 paper
NM_000246.4
p.L370R
c.1109T>G
1 paper
NM_000246.4
p.R372W
c.1114A>T
1 paper
NM_000246.4
p.P337L
c.1010C>T
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