Varaico: Literature-Extracted Genetic Variants

NLRP1

502 papers

RefSeq Summary

This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The enc...

Pfam Domains

PYRINaa 8–84UCSCPAAD/DAPIN/Pyrin domain

NACHTaa 328–497UCSCNACHT domain

WHD_NOD2aa 566–621UCSCNOD2 winged helix domain

NLRC4_HD2aa 623–733UCSCNLRC4 helical domain HD2

LRR_6aa 863–886UCSCLeucine Rich repeat

LRR_6aa 920–943UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 1

HGNC Previous Symbols

NALP1; SLEV1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033004.4

p.W67R

c.199T>A

Surrounding Variants

1 paper

NM_033004.4

p.W67R

c.199T>C

18 papers

NM_033004.4

p.A66V

c.197C>T

1 paper

NM_033004.4

p.Q64H

c.192G>T

1 paper

NM_033004.4

p.Q64H

c.192G>C

1 paper

NM_033004.4

p.Q64L

c.191A>T

3 papers

NM_033004.4

p.A70D

c.209C>A

1 paper

NM_033004.4

p.E63K

c.187G>A

1 paper

NM_033004.4

p.L71H

c.212T>A

1 paper

NM_033004.4

p.G62G

c.186G>T

1 paper

NM_033004.4

p.G62G

c.186G>A

1 paper

NM_033004.4

p.H72L

c.215A>T

1 paper

NM_033004.4

p.A59A

c.177T>A