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.I559V

c.1675A>G

Surrounding Variants

1 paper

NM_001276700.2

p.R561S

c.1681C>A

1 paper

NM_001276700.2

p.H562R

c.1685A>G

1 paper

NM_001276700.2

p.P536Q

c.1607C>A

1 paper

NM_001276700.2

p.A590insFs

c.1769_1770insG

1 paper

NM_001276700.2

p.T521I

c.1562C>T

1 paper

NM_001276700.2

p.A508S

c.1522G>T

3 papers

NM_001276700.2

p.E611G

c.1832A>G

1 paper

NM_001276700.2

p.L506F

c.1516C>T

1 paper

NM_001276700.2

p.L625P

c.1874T>C

1 paper

NM_001276700.2

p.T491A

c.1471A>G

1 paper

NM_001276700.2

p.T628M

c.1883C>T

1 paper

NM_001276700.2

p.V488M

c.1462G>A