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.C264delFs

c.790delA

Surrounding Variants

1 paper

NM_033004.4

p.C264fs

c.790_791fs

1 paper

NM_033004.4

p.C264C

c.792T>C

1 paper

NM_033004.4

p.L263V

c.787C>G

1 paper

NM_033004.4

p.P268S

c.802C>T

1 paper

NM_033004.4

p.K270*

c.808A>T

1 paper

NM_033004.4

p.N271fs

c.811_812fs

1 paper

NM_033004.4

p.N271delFs

c.812delT

2 papers

NM_033004.4

p.D273D

c.819T>C

3 papers

NM_033004.4

p.F274L

c.820T>C

3 papers

NM_033004.4

p.F274L

c.822T>G

3 papers

NM_033004.4

p.F274L

c.822T>A

1 paper

NM_033004.4

p.T246I

c.737C>T