Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.S450S

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.S450S
c.1350T>C
Surrounding Variants
1 paper
NM_000246.4
p.V448V
c.1344C>G
1 paper
NM_000246.4
p.V448fs
c.1342_1343fs
1 paper
NM_000246.4
p.V448delFs
c.1342_1343delGT
1 paper
NM_000246.4
p.D446D
c.1338C>T
1 paper
NM_000246.4
p.Y445Y
c.1335C>T
1 paper
NM_000246.4
p.Q444K
c.1330C>A
1 paper
NM_000246.4
p.P443T
c.1327C>A
1 paper
NM_000246.4
p.R441Q
c.1322G>A
1 paper
NM_000246.4
p.R441W
c.1321C>T
1 paper
NM_000246.4
p.G440V
c.1319G>T
2 papers
NM_000246.4
p.G440S
c.1318G>A
1 paper
NM_000246.4
p.G464V
c.1391G>T
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