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

1–12 of 110 variants

7 papers

NM_176822.4

p.K108*

c.322A>T

6 papers

NM_176822.4

p.D86V

c.257A>T

5 papers

NM_176822.4

p.E808K

c.2422G>A

5 papers

NM_176822.4

p.L1010F

c.3028C>T

3 papers

NM_176822.4

p.R55Q

c.164G>A

3 papers

NM_176822.4

p.L84R

c.251T>G

3 papers

NM_176822.4

p.E125D

c.375A>T

3 papers

NM_176822.4

p.V179M

c.535G>A

3 papers

NM_176822.4

p.A375T

c.1123G>A

3 papers

NM_176822.4

p.L954S

c.2861T>C

2 papers

NM_176822.4

p.E21K

c.61G>A

2 papers

NM_176822.4

p.K92R

c.275A>G