Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.N310delFs

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
4 papers
NM_000246.4
p.N310delFs
c.929delA
Surrounding Variants
1 paper
NM_000246.4
p.A309G
c.926C>G
1 paper
NM_000246.4
p.R308*
c.922C>T
1 paper
NM_000246.4
p.L305V
c.913C>G
1 paper
NM_000246.4
p.P301L
c.902C>T
1 paper
NM_000246.4
p.P298S
c.892C>T
1 paper
NM_000246.4
p.S293L
c.878C>T
1 paper
NM_000246.4
p.S293A
c.877T>G
1 paper
NM_000246.4
p.P292Q
c.875C>A
2 papers
NM_000246.4
p.P292S
c.874C>T
1 paper
NM_000246.4
p.P289H
c.866C>A
1 paper
NM_000246.4
p.P289L
c.866C>T
1 paper
NM_000246.4
p.T287N
c.860C>A
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