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.L28F

c.82C>T

Surrounding Variants

1 paper

NM_033004.4

p.L27P

c.80T>C

1 paper

NM_033004.4

p.N30D

c.88A>G

1 paper

NM_033004.4

p.K31I

c.92A>T

2 papers

NM_033004.4

p.A32V

c.95C>T

1 paper

NM_033004.4

p.K22ins1

c.65_66insGGC

1 paper

NM_033004.4

p.R35G

c.103A>G

1 paper

NM_033004.4

p.R35R

c.105G>A

1 paper

NM_033004.4

p.S36R

c.106A>C

1 paper

NM_033004.4

p.S36R

c.108C>G

1 paper

NM_033004.4

p.S36R

c.108C>A

2 papers

NM_033004.4

p.E19A

c.56A>C

1 paper

NM_033004.4

p.E19Q

c.55G>C