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.P705L

c.2114C>T

Surrounding Variants

1 paper

NM_033004.4

p.P705T

c.2113C>A

1 paper

NM_033004.4

p.L707L

c.2121G>T

1 paper

NM_033004.4

p.M701T

c.2102T>C

1 paper

NM_033004.4

p.P713Q

c.2138C>A

1 paper

NM_033004.4

p.Q696fs

c.2086_2087fs

1 paper

NM_033004.4

p.H714Q

c.2142C>G

1 paper

NM_033004.4

p.H714Q

c.2142C>A

1 paper

NM_033004.4

p.L694L

c.2082G>A

1 paper

NM_033004.4

p.L716V

c.2146C>G

1 paper

NM_033004.4

p.L694P

c.2081T>C

1 paper

NM_033004.4

p.L722*

c.2165T>A

1 paper

NM_033004.4

p.N688S

c.2063A>G