Varaico: Literature-Extracted Genetic Variants

NLRP6

106 papers

RefSeq Summary

The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammat...

Pfam Domains

PYRINaa 20–95UCSCPAAD/DAPIN/Pyrin domain

NACHTaa 196–365UCSCNACHT domain

WHD_NOD2aa 441–497UCSCNOD2 winged helix domain

NLRC4_HD2aa 500–636UCSCNLRC4 helical domain HD2

Gene Aliases

HGNC Name

NLR family pyrin domain containing 6

HGNC Previous Symbol

NALP6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001276700.2

p.L625P

c.1874T>C

Surrounding Variants

1 paper

NM_001276700.2

p.T628M

c.1883C>T

1 paper

NM_001276700.2

p.R635H

c.1904G>A

3 papers

NM_001276700.2

p.E611G

c.1832A>G

1 paper

NM_001276700.2

p.R653G

c.1957C>G

2 papers

NM_001276700.2

p.R653P

c.1958G>C

1 paper

NM_001276700.2

p.A590insFs

c.1769_1770insG

1 paper

NM_001276700.2

p.R664W

c.1990A>T

2 papers

NM_001276700.2

p.K688del1

c.2062_2063delAAG

1 paper

NM_001276700.2

p.H562R

c.1685A>G

1 paper

NM_001276700.2

p.R561S

c.1681C>A

1 paper

NM_001276700.2

p.I559V

c.1675A>G

1 paper

NM_001276700.2

p.G700G

c.2100C>T