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

4 papers

NM_001276700.2

p.M163L

c.487A>C

Surrounding Variants

4 papers

NM_001276700.2

p.M163L

c.487A>T

1 paper

NM_001276700.2

p.L151F

c.451C>T

1 paper

NM_001276700.2

p.T144I

c.431C>T

1 paper

NM_001276700.2

p.R184R

c.552C>A

1 paper

NM_001276700.2

p.R188H

c.563G>A

1 paper

NM_001276700.2

p.R136T

c.407G>C

1 paper

NM_001276700.2

p.V126_L127insAA

c.376_380ins6

1 paper

NM_001276700.2

p.I215L

c.643A>C

4 papers

NM_001276700.2

p.P244A

c.730C>G

1 paper

NM_001276700.2

p.I253F

c.757A>T

1 paper

NM_001276700.2

p.A262V

c.785C>T

2 papers

NM_001276700.2

p.E117K

c.349G>A