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

7 papers

NM_176822.4

p.K108*

c.322A>T

Surrounding Variants

1 paper

NM_176822.4

p.D105H

c.313G>C

1 paper

NM_176822.4

p.S98L

c.293C>T

2 papers

NM_176822.4

p.K92R

c.275A>G

6 papers

NM_176822.4

p.D86V

c.257A>T

3 papers

NM_176822.4

p.L84R

c.251T>G

1 paper

NM_176822.4

p.K63R

c.188A>G

3 papers

NM_176822.4

p.R55Q

c.164G>A

1 paper

NM_176822.4

p.R55W

c.163C>T

1 paper

NM_176822.4

p.N48T

c.143A>C

1 paper

NM_176822.4

p.L44P

c.131T>C

1 paper

NM_176822.4

p.G43D

c.128G>A

1 paper

NM_176822.4

p.K24R

c.71A>G