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.P781S

c.2341C>T

Surrounding Variants

1 paper

NM_033004.4

p.P781T

c.2341C>A

6 papers

NM_033004.4

p.T782S

c.2344A>T

6 papers

NM_033004.4

p.T782S

c.2345C>G

1 paper

NM_033004.4

p.L769fs

c.2305_2306fs

1 paper

NM_033004.4

p.L769delFs

c.2305_2306delAG

1 paper

NM_033004.4

p.V764L

c.2290G>T

1 paper

NM_033004.4

p.V764L

c.2290G>C

1 paper

NM_033004.4

p.S761_R762delFs

c.2282_2285del4

1 paper

NM_033004.4

p.S761fs

c.2281_2282fs

1 paper

NM_033004.4

p.S761C

c.2281A>T

1 paper

NM_033004.4

p.C757F

c.2270G>T

1 paper

NM_033004.4

p.C757S

c.2270G>C