Varaico: Literature-Extracted Genetic Variants

NLRP14

112 papers

RefSeq Summary

The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich rep...

Pfam Domains

PYRINaa 14–89UCSCPAAD/DAPIN/Pyrin domain

NACHTaa 177–346UCSCNACHT domain

WHD_NOD2aa 422–478UCSCNOD2 winged helix domain

NLRC4_HD2aa 480–597UCSCNLRC4 helical domain HD2

LRR_6aa 727–750UCSCLeucine Rich repeat

LRR_6aa 898–921UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 14

HGNC Previous Symbol

NALP14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_176822.4

p.C530F

c.1589G>T

Surrounding Variants

1 paper

NM_176822.4

p.K529N

c.1587G>C

1 paper

NM_176822.4

p.K529N

c.1587G>T

1 paper

NM_176822.4

p.Q527L

c.1580A>T

1 paper

NM_176822.4

p.R540Q

c.1619G>A

1 paper

NM_176822.4

p.C505*

c.1515C>A

1 paper

NM_176822.4

p.A500S

c.1498G>T

1 paper

NM_176822.4

p.Y587C

c.1760A>G

1 paper

NM_176822.4

p.A593V

c.1778C>T

1 paper

NM_176822.4

p.A598V

c.1793C>T

1 paper

NM_176822.4

p.S619F

c.1856C>T

1 paper

NM_176822.4

p.V441M

c.1321G>A

1 paper

NM_176822.4

p.R626W

c.1876C>T