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.S951T

c.2851T>A

Surrounding Variants

1 paper

NM_176822.4

p.I953T

c.2858T>C

3 papers

NM_176822.4

p.L954S

c.2861T>C

1 paper

NM_176822.4

p.A980G

c.2939C>G

1 paper

NM_176822.4

p.Y983*

c.2949T>A

1 paper

NM_176822.4

p.Y983*

c.2949T>G

1 paper

NM_176822.4

p.G992R

c.2974G>A

1 paper

NM_176822.4

p.G992R

c.2974G>C

1 paper

NM_176822.4

p.D933Y

c.2797G>T

1 paper

NM_176822.4

p.N910S

c.2729A>G

1 paper

NM_176822.4

p.L887delins

c.2660delinsGCTA

1 paper

NM_176822.4

p.V878Splc

c.2634-2A>T

1 paper

NM_176822.4

p.V878E

c.2633T>A