Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.A816S

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.A816S
c.2446G>T
Surrounding Variants
1 paper
NM_000246.4
p.A816G
c.2447C>G
3 papers
NM_000246.4
p.E815K
c.2443G>A
1 paper
NM_000246.4
p.E817K
c.2449G>A
1 paper
NM_000246.4
p.E818K
c.2452G>A
5 papers
NM_000246.4
p.C812*
c.2436C>A
1 paper
NM_000246.4
p.H811R
c.2432A>G
1 paper
NM_000246.4
p.L810Q
c.2429T>A
1 paper
NM_000246.4
p.L807L
c.2421G>T
1 paper
NM_000246.4
p.H824H
c.2472C>T
1 paper
NM_000246.4
p.R804Q
c.2411G>A
1 paper
NM_000246.4
p.A803E
c.2408C>A
3 papers
NM_000246.4
p.A803V
c.2408C>T
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