Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.E379K

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.E379K
c.1135G>A
Surrounding Variants
1 paper
NM_000246.4
p.E379A
c.1136A>C
3 papers
NM_000246.4
p.E381*
c.1141G>T
1 paper
NM_000246.4
p.A383D
c.1148C>A
1 paper
NM_000246.4
p.T384N
c.1151C>A
1 paper
NM_000246.4
p.R372W
c.1114A>T
1 paper
NM_000246.4
p.W387*
c.1160G>A
2 papers
NM_000246.4
p.W387*
c.1161G>A
1 paper
NM_000246.4
p.L370R
c.1109T>G
2 papers
NM_000246.4
p.R390W
c.1168C>T
1 paper
NM_000246.4
p.Q367H
c.1101G>C
1 paper
NM_000246.4
p.R390P
c.1169G>C
1 paper
NM_000246.4
p.Q367H
c.1101G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."