Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.F962S

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
6 papers
NM_000246.4
p.F962S
c.2885T>C
Surrounding Variants
2 papers
NM_000246.4
p.A963V
c.2888C>T
1 paper
NM_000246.4
p.A963Splc
c.2888+1G>A
1 paper
NM_000246.4
p.E950*
c.2848G>T
1 paper
NM_000246.4
p.T940R
c.2819C>G
1 paper
NM_000246.4
p.R939Splc
c.2817-60A>G
1 paper
NM_000246.4
p.S924F
c.2771C>T
1 paper
NM_000246.4
p.A922V
c.2765C>T
1 paper
NM_000246.4
p.Q909*
c.2725C>T
1 paper
NM_000246.4
p.E904insFs
c.2710_2711insG
2 papers
NM_000246.4
p.Q901R
c.2702A>G
4 papers
NM_001286403.2
p.Q316R
c.947A>G
NM_000246.4
p.Q900R
c.2699A>G
2 papers
NM_000246.4
p.Q900*
c.2698C>T
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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."