Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.G28_L30delFs

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.G28_L30delFs
c.82_88del7
Surrounding Variants
1 paper
NM_000246.4
p.G28V
c.83G>T
1 paper
NM_000246.4
p.P29_L30insFs
c.87_88insC
1 paper
NM_000246.4
p.P29_L30delFs
c.87_88delCC
1 paper
NM_000246.4
p.P29_L30delFs
c.85_88del4
1 paper
NM_000246.4
p.P29Fs
c.85_87delinsTFs
1 paper
NM_000246.4
p.L30_G32delFs
c.88_94del7
1 paper
NM_000246.4
p.L30V
c.88C>G
1 paper
NM_000246.4
p.L30delFs
c.89_90delTA
1 paper
NM_000246.4
p.L30delFs
c.90delA
2 papers
NM_000246.4
p.Q21H
c.63G>C
2 papers
NM_000246.4
p.Q21H
c.63G>T
1 paper
NM_000246.4
p.L37H
c.110T>A
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