Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.G500A

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
12 papers
NM_000246.4
p.G500A
c.1499G>C
Surrounding Variants
1 paper
NM_000246.4
p.G500delFs
c.1499delG
1 paper
NM_000246.4
p.E502K
c.1504G>A
1 paper
NM_000246.4
p.L504fs
c.1510_1511fs
1 paper
NM_000246.4
p.L496F
c.1486C>T
2 papers
NM_000246.4
p.L495R
c.1484T>G
1 paper
NM_000246.4
p.A506V
c.1517C>T
2 papers
NM_000246.4
p.D508D
c.1524T>C
1 paper
NM_000246.4
p.P491H
c.1472C>A
1 paper
NM_000246.4
p.F510fs
c.1528_1529fs
1 paper
NM_001286402.1
p.L512P
c.1535T>C
1 paper
NM_000246.4
p.H512Q
c.1536C>A
1 paper
NM_000246.4
p.H512Q
c.1536C>G
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