Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.H697Q

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.H697Q
c.2091C>A
Surrounding Variants
1 paper
NM_000246.4
p.H697Q
c.2091C>G
1 paper
NM_000246.4
p.L694S
c.2081T>C
1 paper
NM_000246.4
p.A702T
c.2104G>A
1 paper
NM_000246.4
p.G693C
c.2077G>T
1 paper
NM_000246.4
p.E703K
c.2107G>A
5 papers
NM_000246.4
p.A691D
c.2072C>A
1 paper
NM_000246.4
p.W688*
c.2064G>A
2 papers
NM_000246.4
p.W688*
c.2063G>A
1 paper
NM_000246.4
p.T687A
c.2059A>G
1 paper
NM_000246.4
p.P681fs
c.2041_2042fs
1 paper
NM_000246.4
p.Q714Q
c.2142A>G
1 paper
NM_000246.4
p.P681delFs
c.2042delC
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