Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.W1108*

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.W1108*
c.3323G>A
Surrounding Variants
1 paper
NM_000246.4
p.W1108*
c.3324G>A
1 paper
NM_000246.4
p.T1109A
c.3325A>G
1 paper
NM_000246.4
p.T1109M
c.3326C>T
1 paper
NM_000246.4
p.M1107_T1109del0
c.3320_3325del6
5 papers
NM_000246.4
p.S1115N
c.3344G>A
1 paper
NM_000246.4
p.V1116_H1119del0
c.3348_3356del9
1 paper
NM_000246.4
p.L1120Q
c.3359T>A
1 paper
NM_000246.4
p.Q1122*
c.3364C>T
1 paper
NM_000246.4
p.D1124G
c.3371A>G
1 paper
NM_000246.4
p.S1125L
c.3374C>T
1 paper
NM_000246.4
p.*1131R
c.3391T>A
1 paper
NM_000246.4
p.*1131R
c.3391T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."