Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.Q591*

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.Q591*
c.1771C>T
Surrounding Variants
1 paper
NM_000246.4
p.R593delFs
c.1777_1778delAG
1 paper
NM_000246.4
p.R593fs
c.1777_1778fs
2 papers
NM_000246.4
p.R601W
c.1801C>T
1 paper
NM_000246.4
p.R580C
c.1738C>T
1 paper
NM_000246.4
p.M579I
c.1737G>A
1 paper
NM_000246.4
p.M579I
c.1737G>C
1 paper
NM_000246.4
p.M579I
c.1737G>T
1 paper
NM_000246.4
p.L604delFs
c.1810_1811delCT
1 paper
NM_000246.4
p.L604fs
c.1810_1811fs
1 paper
NM_000246.4
p.L604F
c.1810C>T
1 paper
NM_000246.4
p.F569S
c.1706T>C
1 paper
NM_000246.4
p.L613F
c.1839G>C
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