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

1–12 of 99 variants

8 papers

NM_001276700.2

p.Y361F

c.1082A>T

4 papers

NM_001276700.2

p.M163L

c.487A>C

4 papers

NM_001276700.2

p.M163L

c.487A>T

4 papers

NM_001276700.2

p.P244A

c.730C>G

3 papers

NM_001276700.2

p.Y361delins

c.1082_1083delinsTC

3 papers

NM_001276700.2

p.E611G

c.1832A>G

2 papers

NM_001276700.2

p.E117K

c.349G>A

2 papers

NM_001276700.2

p.L284P

c.851T>C

2 papers

NM_001276700.2

p.S313S

c.939C>T

2 papers

NM_001276700.2

p.K356del1

c.1066_1067delAAG

2 papers

NM_001276700.2

p.R653P

c.1958G>C

2 papers

NM_001276700.2

p.K688del1

c.2062_2063delAAG