Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.P16insFs

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.P16insFs
c.46dupC
Surrounding Variants
2 papers
NM_000246.4
p.E15G
c.44A>G
1 paper
NM_000246.4
p.P16S
c.46C>T
1 paper
NM_000246.4
p.E15fs
c.43_44fs
3 papers
NM_000246.4
p.G18S
c.52G>A
1 paper
NM_000246.4
p.G18R
c.52G>C
1 paper
NM_000246.4
p.L13fs
c.37_38fs
1 paper
NM_000246.4
p.G18Splc
c.52+1G>A
1 paper
NM_000246.4
p.G18Splc
c.52+1G>T
1 paper
NM_000246.4
p.G18Splc
c.52+2T>C
1 paper
NM_000246.4
p.Y12fs
c.34_35fs
1 paper
NM_000246.4
p.Y12_P16delFs
c.34_46del13
1 paper
NM_000246.4
p.S11P
c.31T>C
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