Varaico: Literature-Extracted Genetic Variants

Gene:CIITA
Variant:p.L538L

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.L538L
c.1614C>G
Surrounding Variants
3 papers
NM_000246.4
p.R539*
c.1615C>T
1 paper
NM_000246.4
p.L538F
c.1612C>T
1 paper
NM_000246.4
p.R539Q
c.1616G>A
1 paper
NM_000246.4
p.L537V
c.1609C>G
1 paper
NM_000246.4
p.C541_T542delFs
c.1621_1625del5
1 paper
NM_000246.4
p.C541fs
c.1621_1622fs
1 paper
NM_000246.4
p.L544P
c.1631T>C
1 paper
NM_000246.4
p.G531D
c.1592G>A
1 paper
NM_000246.4
p.R550W
c.1648C>T
1 paper
NM_000246.4
p.G551delFs
c.1652delG
1 paper
NM_000246.4
p.G527A
c.1580G>C
1 paper
NM_000246.4
p.G527R
c.1579G>A
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