Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.M1I

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
7 papers
NM_000246.4
p.M1I
c.3G>A
Surrounding Variants
1 paper
NM_000246.4
p.M1_R2insFs
c.3_4insA
3 papers
NM_000246.4
p.R2C
c.4C>T
1 paper
NM_000246.4
p.M1K
c.2T>A
1 paper
NM_000246.4
p.M1R
c.2T>G
1 paper
NM_000246.4
p.M1insFs
c.2dupT
1 paper
NM_000246.4
p.M1V
c.1A>G
1 paper
NM_000246.4
p.L4L
c.12G>C
3 papers
NM_000246.4
p.A5T
c.13G>A
1 paper
NM_000246.4
p.R7C
c.19C>T
3 papers
NM_000246.4
p.R7H
c.20G>A
1 paper
NM_000246.4
p.P8H
c.23C>A
1 paper
NM_000246.4
p.S11P
c.31T>C
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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."