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.D302A

c.905A>C

Surrounding Variants

3 papers

NM_033004.4

p.P301L

c.902C>T

2 papers

NM_033004.4

p.P301S

c.901C>T

2 papers

NM_033004.4

p.V304A

c.911T>C

1 paper

NM_033004.4

p.W300S

c.899G>C

1 paper

NM_033004.4

p.E305D

c.915G>C

1 paper

NM_033004.4

p.E306Q

c.916G>C

1 paper

NM_033004.4

p.E306K

c.916G>A

1 paper

NM_033004.4

p.E306A

c.917A>C

1 paper

NM_033004.4

p.E306D

c.918G>T

1 paper

NM_033004.4

p.E306D

c.918G>C

1 paper

NM_033004.4

p.R308*

c.922C>T

8 papers

NM_033004.4

p.R308Q

c.923G>A