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.C391Y

c.1172G>A

Surrounding Variants

1 paper

NM_001276700.2

p.R410C

c.1228C>T

1 paper

NM_001276700.2

p.R410H

c.1229G>A

1 paper

NM_001276700.2

p.A371D

c.1112C>A

1 paper

NM_001276700.2

p.E369K

c.1105G>A

1 paper

NM_001276700.2

p.E369Q

c.1105G>C

1 paper

NM_001276700.2

p.T414A

c.1240A>G

1 paper

NM_001276700.2

p.T416M

c.1247C>T

1 paper

NM_001276700.2

p.Y419C

c.1256A>G

1 paper

NM_001276700.2

p.F362S

c.1085T>C

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.S425G

c.1273A>G