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.R38L

c.113G>T

Surrounding Variants

1 paper

NM_001276700.2

p.R36H

c.107G>A

1 paper

NM_001276700.2

p.L34M

c.100C>A

1 paper

NM_001276700.2

p.R42_D43insFs

c.126_127insAA

1 paper

NM_001276700.2

p.G45S

c.133G>A

1 paper

NM_001276700.2

p.E28V

c.83A>T

1 paper

NM_001276700.2

p.R49H

c.146G>A

1 paper

NM_001276700.2

p.R55R

c.165G>A

1 paper

NM_001276700.2

p.A18P

c.52G>C

1 paper

NM_001276700.2

p.Q67L

c.200A>T

1 paper

NM_001276700.2

p.P76R

c.227C>G

1 paper

NM_001276700.2

p.R101R

c.303G>C

2 papers

NM_001276700.2

p.E117K

c.349G>A