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.E654K

c.1960G>A

Surrounding Variants

1 paper

NM_033004.4

p.K655*

c.1963A>T

1 paper

NM_033004.4

p.T656M

c.1967C>T

2 papers

NM_033004.4

p.C649Y

c.1946G>A

1 paper

NM_033004.4

p.H646Y

c.1936C>T

1 paper

NM_033004.4

p.I662T

c.1985T>C

1 paper

NM_033004.4

p.E638Q

c.1912G>C

3 papers

NM_033004.4

p.T670I

c.2009C>T

1 paper

NM_033004.4

p.T671I

c.2012C>T

2 papers

NM_033004.4

p.S634Y

c.1901C>A

1 paper

NM_033004.4

p.S634T

c.1900T>A

3 papers

NM_033004.4

p.F629L

c.1887C>G

3 papers

NM_033004.4

p.F629L

c.1887C>A