Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.T800I

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.T800I
c.2399C>T
Surrounding Variants
1 paper
NM_000246.4
p.L801P
c.2402T>C
1 paper
NM_000246.4
p.A803E
c.2408C>A
3 papers
NM_000246.4
p.A803V
c.2408C>T
1 paper
NM_000246.4
p.Q797*
c.2389C>T
1 paper
NM_000246.4
p.R804Q
c.2411G>A
1 paper
NM_000246.4
p.R795Q
c.2384G>A
1 paper
NM_000246.4
p.L807L
c.2421G>T
1 paper
NM_000246.4
p.A790V
c.2369C>T
1 paper
NM_000246.4
p.L810Q
c.2429T>A
1 paper
NM_000246.4
p.H811R
c.2432A>G
1 paper
NM_000246.4
p.L789P
c.2366T>C
5 papers
NM_000246.4
p.C812*
c.2436C>A
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