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

58 papers

NM_033004.4

p.L155H

c.464T>A

Surrounding Variants

1 paper

NM_033004.4

p.E150Splc

c.449-3C>G

3 papers

NM_033004.4

p.E167D

c.501G>T

3 papers

NM_033004.4

p.E167D

c.501G>C

1 paper

NM_033004.4

p.Q171*

c.511C>T

1 paper

NM_033004.4

p.E172A

c.515A>C

1 paper

NM_033004.4

p.A176P

c.526G>C

1 paper

NM_033004.4

p.P177T

c.529C>A

1 paper

NM_033004.4

p.V182M

c.544G>A

1 paper

NM_033004.4

p.P190fs

c.568_569fs

1 paper

NM_033004.4

p.L194delFs

c.581delA

1 paper

NM_033004.4

p.E198K

c.592G>A

1 paper

NM_033004.4

p.P202S

c.604C>T