Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.S652fs

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.S652fs
c.1954_1955fs
Surrounding Variants
3 papers
NM_000246.4
p.P654_G655insFs
c.1962_1963insC
NM_001286402.1
p.P655insFs
c.1965dupC
2 papers
NM_000246.4
p.P654delFs
c.1962delC
1 paper
NM_000246.4
p.P653S
c.1957C>T
1 paper
NM_000246.4
p.P654A
c.1960C>G
1 paper
NM_000246.4
p.A649D
c.1946C>A
2 papers
NM_001286402.1
p.A650G
c.1949C>G
1 paper
NM_001286402.1
p.G656fs
c.1966_1967fs
1 paper
NM_000246.4
p.A648A
c.1944A>T
1 paper
NM_000246.4
p.G655A
c.1964G>C
1 paper
NM_000246.4
p.A648E
c.1943C>A
1 paper
NM_000246.4
p.G643D
c.1928G>A
1 paper
NM_000246.4
p.Y641C
c.1922A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."