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.A329T

c.985G>A

Surrounding Variants

1 paper

NM_001276700.2

p.L334Q

c.1001T>A

1 paper

NM_001276700.2

p.T319M

c.956C>T

1 paper

NM_001276700.2

p.C343C

c.1029C>T

2 papers

NM_001276700.2

p.S313S

c.939C>T

1 paper

NM_001276700.2

p.R347H

c.1040G>A

1 paper

NM_001276700.2

p.S350T

c.1048T>A

1 paper

NM_001276700.2

p.R306Q

c.917G>A

2 papers

NM_001276700.2

p.K356del1

c.1066_1067delAAG

8 papers

NM_001276700.2

p.Y361F

c.1082A>T

3 papers

NM_001276700.2

p.Y361delins

c.1082_1083delinsTC

1 paper

NM_001276700.2

p.F362S

c.1085T>C

1 paper

NM_001276700.2

p.G289D

c.866G>A