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

2 papers

NM_033004.4

p.T246A

c.736A>G

Surrounding Variants

10 papers

NM_033004.4

p.T246S

c.736A>T

1 paper

NM_033004.4

p.T246I

c.737C>T

10 papers

NM_033004.4

p.T246S

c.737C>G

1 paper

NM_033004.4

p.A244V

c.731C>T

1 paper

NM_033004.4

p.P242Q

c.725C>A

1 paper

NM_033004.4

p.G239R

c.715G>C

1 paper

NM_033004.4

p.G239R

c.715G>A

1 paper

NM_033004.4

p.P233L

c.698C>T

1 paper

NM_033004.4

p.L263V

c.787C>G

1 paper

NM_033004.4

p.K229Q

c.685A>C

1 paper

NM_033004.4

p.C264delFs

c.790delA

1 paper

NM_033004.4

p.C264fs

c.790_791fs