Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.P519Q

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.P519Q
c.1556C>A
Surrounding Variants
1 paper
NM_000246.4
p.P517L
c.1550C>T
2 papers
NM_000246.4
p.P522S
c.1564C>T
1 paper
NM_000246.4
p.C523S
c.1567T>A
1 paper
NM_000246.4
p.C523S
c.1568G>C
1 paper
NM_000246.4
p.C523F
c.1568G>T
1 paper
NM_000246.4
p.T514M
c.1541C>T
1 paper
NM_000246.4
p.S524S
c.1572C>T
1 paper
NM_000246.4
p.H512Q
c.1536C>A
1 paper
NM_000246.4
p.H512Q
c.1536C>G
3 papers
NM_000246.4
p.R526W
c.1576C>T
1 paper
NM_000246.4
p.R526P
c.1577G>C
1 paper
NM_000246.4
p.G527R
c.1579G>A
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