Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.Q676*

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.Q676*
c.2026C>T
Surrounding Variants
1 paper
NM_000246.4
p.E677*
c.2029G>T
1 paper
NM_000246.4
p.T674I
c.2021C>T
1 paper
NM_000246.4
p.Q679E
c.2035C>G
1 paper
NM_000246.4
p.P681delFs
c.2042delC
1 paper
NM_000246.4
p.P681fs
c.2041_2042fs
1 paper
NM_000246.4
p.R669R
c.2007C>A
1 paper
NM_000246.4
p.T687A
c.2059A>G
1 paper
NM_000246.4
p.A664T
c.1990G>A
2 papers
NM_000246.4
p.W688*
c.2063G>A
1 paper
NM_000246.4
p.W688*
c.2064G>A
5 papers
NM_000246.4
p.A691D
c.2072C>A
1 paper
NM_000246.4
p.G693C
c.2077G>T
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