Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.Q53H

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.Q53H
c.159G>C
Surrounding Variants
1 paper
NM_000246.4
p.Q53H
c.159G>T
1 paper
NM_000246.4
p.D55G
c.164A>G
3 papers
NM_000246.4
p.L56L
c.168G>A
1 paper
NM_000246.4
p.L47L
c.141C>T
1 paper
NM_000246.4
p.E60K
c.178G>A
1 paper
NM_000246.4
p.C46S
c.137G>C
1 paper
NM_000246.4
p.E61V
c.182A>T
1 paper
NM_000246.4
p.E61_I62delins
c.183_184delinsCT
6 papers
NM_000246.4
p.L45V
c.133C>G
3 papers
NM_000246.4
p.I62T
c.185T>C
1 paper
NM_000246.4
p.E63K
c.187G>A
1 paper
NM_000246.4
p.E63G
c.188A>G
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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."