Varaico: Literature-Extracted Genetic Variants

Gene:BAG6
Variant:p.L17V

BAG6

98 papers

RefSeq Summary

This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspa...

Pfam Domains

ubiquitinaa 19–89UCSCUbiquitin family
BAG6aa 270–386UCSCBCL2-associated athanogene 6
Bag6_BAGSaa 1027–1079UCSCBag6, BAG-similar domain

Gene Aliases

HGNC Name

BAG cochaperone 6

HGNC Previous Symbol

BAT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001387994.1
p.L17V
c.49T>G
Surrounding Variants
1 paper
NM_001387994.1
p.L17M
c.49T>A
1 paper
NM_001387994.1
p.L17W
c.50T>G
1 paper
NM_001387994.1
p.L17S
c.50T>C
1 paper
NM_001387994.1
p.L17F
c.51G>T
1 paper
NM_001387994.1
p.L17F
c.51G>C
1 paper
NM_001387994.1
p.S16T
c.47G>C
1 paper
NM_001387994.1
p.E18Q
c.52G>C
1 paper
NM_001387994.1
p.E18K
c.52G>A
1 paper
NM_001387994.1
p.E18V
c.53A>T
1 paper
NM_001387994.1
p.E18G
c.53A>G
1 paper
NM_001387994.1
p.E18A
c.53A>C
1 paper
NM_001387994.1
p.E18D
c.54G>T
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