Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.R414*

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.R414*
c.1240C>T
Surrounding Variants
1 paper
NM_000246.4
p.R414Q
c.1241G>A
1 paper
NM_000246.4
p.T413I
c.1238C>T
2 papers
NM_000246.4
p.V418_L419insFs
c.1253_1257dup5
1 paper
NM_000246.4
p.P410P
c.1230G>A
2 papers
NM_000246.4
p.P410L
c.1229C>T
1 paper
NM_000246.4
p.V418L
c.1252G>C
1 paper
NM_000246.4
p.V418L
c.1252G>T
1 paper
NM_000246.4
p.V418A
c.1253T>C
4 papers
NM_000246.4
p.R409W
c.1225C>T
1 paper
NM_000246.4
p.R408Q
c.1223G>A
1 paper
NM_000246.4
p.G420S
c.1258G>A
2 papers
NM_000246.4
p.G420fs
c.1258_1259fs
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