Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.G878*

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.G878*
c.2632G>T
Surrounding Variants
1 paper
NM_000246.4
p.V877M
c.2629G>A
1 paper
NM_000246.4
p.C881Y
c.2642G>A
1 paper
NM_000246.4
p.S871C
c.2612C>G
1 paper
NM_000246.4
p.S865S
c.2595C>T
1 paper
NM_000246.4
p.L863F
c.2587C>T
1 paper
NM_000246.4
p.D862G
c.2585A>G
1 paper
NM_000246.4
p.H846R
c.2537A>G
1 paper
NM_000246.4
p.P843A
c.2527C>G
1 paper
NM_000246.4
p.L840R
c.2519T>G
2 papers
NM_000246.4
p.L836V
c.2506C>G
1 paper
NM_000246.4
p.L833fs
c.2497_2498fs
2 papers
NM_000246.4
p.R832H
c.2495G>A
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