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.K340M

c.1019A>T

Surrounding Variants

1 paper

NM_033004.4

p.K340R

c.1019A>G

1 paper

NM_033004.4

p.S341A

c.1021T>G

1 paper

NM_033004.4

p.L343V

c.1027C>G

1 paper

NM_033004.4

p.G337A

c.1010G>C

1 paper

NM_033004.4

p.L332fs

c.994_995fs

1 paper

NM_033004.4

p.L332V

c.994C>G

1 paper

NM_033004.4

p.E349K

c.1045G>A

2 papers

NM_033004.4

p.A350V

c.1049C>T

1 paper

NM_033004.4

p.R328H

c.983G>A

1 paper

NM_033004.4

p.R353G

c.1057A>G

2 papers

NM_033004.4

p.G354D

c.1061G>A

1 paper

NM_033004.4

p.F318Y

c.953T>A