Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.G425S

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.G425S
c.1273G>A
Surrounding Variants
1 paper
NM_000246.4
p.G425A
c.1274G>C
1 paper
NM_000246.4
p.K426E
c.1276A>G
1 paper
NM_000246.4
p.Q424*
c.1270C>T
1 paper
NM_000246.4
p.G420A
c.1259G>C
1 paper
NM_000246.4
p.G420S
c.1258G>A
2 papers
NM_000246.4
p.G420fs
c.1258_1259fs
1 paper
NM_000246.4
p.G431delFs
c.1291_1292delGG
1 paper
NM_000246.4
p.V418A
c.1253T>C
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.V433G
c.1298T>G
2 papers
NM_000246.4
p.V418_L419insFs
c.1253_1257dup5
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