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.A1185G

c.3554C>G

Surrounding Variants

4 papers

NM_033004.4

p.M1184T

c.3551T>C

NM_033007.4

p.M1154T

c.3461T>C

25 papers

NM_033004.4

p.M1184V

c.3550A>G

1 paper

NM_033004.4

p.K1188E

c.3562A>G

1 paper

NM_033004.4

p.P1197T

c.3589C>A

1 paper

NM_033004.4

p.E1208V

c.3623A>T

6 papers

NM_033004.4

p.S1213A

c.3637T>G

1 paper

NM_033004.4

p.S1213C

c.3638C>G

1 paper

NM_033004.4

p.P1214A

c.3640C>G

4 papers

NM_033004.4

p.P1214L

c.3641C>T

24 papers

NM_033004.4

p.P1214R

c.3641C>G

1 paper

NM_033004.4

p.L1215S

c.3644T>C

1 paper

NM_033004.4

p.A1225V

c.3674C>T