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.K583insFs

c.1748dupA

Surrounding Variants

1 paper

NM_033004.4

p.K583fs

c.1747_1748fs

2 papers

NM_033004.4

p.K583delFs

c.1748delT

1 paper

NM_033004.4

p.K582N

c.1746A>T

1 paper

NM_033004.4

p.K582N

c.1746A>C

4 papers

NM_033004.4

p.G578S

c.1732G>A

2 papers

NM_033004.4

p.R592R

c.1776G>A

1 paper

NM_033004.4

p.L568V

c.1702C>G

3 papers

NM_033004.4

p.I601F

c.1801A>T

2 papers

NM_033004.4

p.I601I

c.1803C>T

1 paper

NM_033004.4

p.T603I

c.1808C>T

1 paper

NM_033004.4

p.M607L

c.1819A>T

1 paper

NM_033004.4

p.M607L

c.1819A>C