Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.V782A

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
4 papers
NM_000246.4
p.V782A
c.2345T>C
Surrounding Variants
4 papers
NM_000246.4
p.S781L
c.2342C>T
1 paper
NM_000246.4
p.S781_V782delins
c.2342_2345delinsTGGC
1 paper
NM_000246.4
p.A780T
c.2338G>A
1 paper
NM_000246.4
p.Q786K
c.2356C>A
1 paper
NM_000246.4
p.A778V
c.2333C>T
1 paper
NM_000246.4
p.L789P
c.2366T>C
1 paper
NM_000246.4
p.A790V
c.2369C>T
1 paper
NM_000246.4
p.L774F
c.2320C>T
1 paper
NM_000246.4
p.G771V
c.2312G>T
1 paper
NM_000246.4
p.R795Q
c.2384G>A
1 paper
NM_000246.4
p.Q797*
c.2389C>T
1 paper
NM_000246.4
p.A767T
c.2299G>A
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