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.E739D

c.2217A>T

Surrounding Variants

1 paper

NM_033004.4

p.E739D

c.2217A>C

1 paper

NM_033004.4

p.E739V

c.2216A>T

1 paper

NM_033004.4

p.E739K

c.2215G>A

1 paper

NM_033004.4

p.M735I

c.2205G>T

1 paper

NM_033004.4

p.D748G

c.2243A>G

1 paper

NM_033004.4

p.D748A

c.2243A>C

1 paper

NM_033004.4

p.N727D

c.2179A>G

16 papers

NM_033004.4

p.R726W

c.2176C>T

1 paper

NM_033004.4

p.R726R

c.2176C>A

1 paper

NM_033004.4

p.C754S

c.2260T>A

1 paper

NM_033004.4

p.T725I

c.2174C>T

1 paper

NM_033004.4

p.C754S

c.2261G>C