Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.D561N

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.D561N
c.1681G>A
Surrounding Variants
2 papers
NM_000246.4
p.D561D
c.1683C>T
2 papers
NM_000246.4
p.A562T
c.1684G>A
1 paper
NM_000246.4
p.V554L
c.1660G>C
1 paper
NM_000246.4
p.V554fs
c.1660_1661fs
1 paper
NM_000246.4
p.F569S
c.1706T>C
1 paper
NM_000246.4
p.G551fs
c.1651_1652fs
1 paper
NM_000246.4
p.R550W
c.1648C>T
1 paper
NM_000246.4
p.G551delFs
c.1652delG
1 paper
NM_000246.4
p.L544P
c.1631T>C
1 paper
NM_000246.4
p.M579I
c.1737G>A
1 paper
NM_000246.4
p.M579I
c.1737G>C
1 paper
NM_000246.4
p.M579I
c.1737G>T
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