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.L356fs

c.1066_1067fs

Surrounding Variants

1 paper

NM_176822.4

p.L356delFs

c.1068delA

1 paper

NM_176822.4

p.Y340*

c.1020C>A

1 paper

NM_176822.4

p.Y340*

c.1020C>G

3 papers

NM_176822.4

p.A375T

c.1123G>A

1 paper

NM_176822.4

p.L379L

c.1137G>T

1 paper

NM_176822.4

p.L318*

c.953T>A

1 paper

NM_176822.4

p.L315P

c.944T>C

1 paper

NM_176822.4

p.T397I

c.1190C>T

1 paper

NM_176822.4

p.Y403C

c.1208A>G

1 paper

NM_176822.4

p.V305M

c.913G>A

1 paper

NM_176822.4

p.L304S

c.911T>C

1 paper

NM_176822.4

p.F408L

c.1222T>C