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.G1067R

c.3199G>A

Surrounding Variants

1 paper

NM_176822.4

p.G1067R

c.3199G>C

1 paper

NM_176822.4

p.G1049G

c.3147G>A

1 paper

NM_176822.4

p.W1091*

c.3272G>A

1 paper

NM_176822.4

p.W1091*

c.3273G>A

1 paper

NM_176822.4

p.K1036delFs

c.3107_3108delAA

1 paper

NM_176822.4

p.K1033K

c.3099G>A

2 papers

NM_176822.4

p.M1019I

c.3057G>A

2 papers

NM_176822.4

p.M1019I

c.3057G>C

2 papers

NM_176822.4

p.M1019I

c.3057G>T

5 papers

NM_176822.4

p.L1010F

c.3028C>T

1 paper

NM_176822.4

p.C1003F

c.3008G>T

1 paper

NM_176822.4

p.G992R

c.2974G>A