Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.R390P

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.R390P
c.1169G>C
Surrounding Variants
2 papers
NM_000246.4
p.R390W
c.1168C>T
1 paper
NM_000246.4
p.Q391*
c.1171C>T
2 papers
NM_000246.4
p.W387*
c.1161G>A
1 paper
NM_000246.4
p.W387*
c.1160G>A
1 paper
NM_000246.4
p.T384N
c.1151C>A
1 paper
NM_000246.4
p.L397L
c.1189C>T
1 paper
NM_000246.4
p.A383D
c.1148C>A
3 papers
NM_000246.4
p.E381*
c.1141G>T
1 paper
NM_000246.4
p.E379A
c.1136A>C
1 paper
NM_000246.4
p.E379K
c.1135G>A
1 paper
NM_000246.4
p.A403delFs
c.1209delT
1 paper
NM_000246.4
p.H407N
c.1219C>A
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