Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.G464V

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.G464V
c.1391G>T
Surrounding Variants
1 paper
NM_000246.4
p.L465Q
c.1394T>A
1 paper
NM_000246.4
p.L465P
c.1394T>C
1 paper
NM_000246.4
p.L468M
c.1402C>A
1 paper
NM_000246.4
p.L468V
c.1402C>G
1 paper
NM_000246.4
p.L468P
c.1403T>C
1 paper
NM_000246.4
p.L469F
c.1405C>T
9 papers
NM_000246.4
p.L469P
c.1406T>C
1 paper
NM_001286402.1
p.L473_P475delFs
c.1418_1424del7
1 paper
NM_001286402.1
p.L473fs
c.1417_1418fs
1 paper
NM_000246.4
p.G473G
c.1419C>T
1 paper
NM_000246.4
p.L477I
c.1429C>A
2 papers
NM_000246.4
p.V478M
c.1432G>A
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