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.R898Q

c.2693G>A

Surrounding Variants

1 paper

NM_033004.4

p.K895fs

c.2683_2684fs

1 paper

NM_033004.4

p.C894_K895insFs

c.2682_2683insG

1 paper

NM_033004.4

p.S893T

c.2678G>C

1 paper

NM_033004.4

p.R888*

c.2662A>T

1 paper

NM_033004.4

p.G881R

c.2641G>C

1 paper

NM_033004.4

p.G881R

c.2641G>A

10 papers

NM_033004.4

p.T878M

c.2633C>T

4 papers

NM_033004.4

p.E869K

c.2605G>A

1 paper

NM_033004.4

p.N864fs

c.2590_2591fs

2 papers

NM_033004.4

p.N864delFs

c.2591delT

1 paper

NM_033004.4

p.A858D

c.2573C>A

1 paper

NM_033004.4

p.C854C

c.2562C>T