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.S1233F

c.3698C>T

Surrounding Variants

4 papers

NM_033004.4

p.V1231I

c.3691G>A

1 paper

NM_033004.4

p.P1230S

c.3688C>T

1 paper

NM_033004.4

p.R1240insFs

c.3718_3719ins5

2 papers

NM_033004.4

p.R1240H

c.3719G>A

7 papers

NM_033004.4

p.V1241L

c.3721G>C

1 paper

NM_033004.4

p.V1241I

c.3721G>A

1 paper

NM_033004.4

p.A1225V

c.3674C>T

1 paper

NM_033004.4

p.E1245Q

c.3733G>C

1 paper

NM_033004.4

p.H1249Y

c.3745C>T

1 paper

NM_033004.4

p.L1215S

c.3644T>C

1 paper

NM_033004.4

p.Y1251*

c.3753C>A

4 papers

NM_033004.4

p.P1214L

c.3641C>T