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.V213delFs

c.638delT

Surrounding Variants

1 paper

NM_176822.4

p.V213fs

c.637_638fs

1 paper

NM_176822.4

p.N217Y

c.649A>T

1 paper

NM_176822.4

p.G203fs

c.607_608fs

1 paper

NM_176822.4

p.E202delFs

c.606delG

1 paper

NM_176822.4

p.I233L

c.697A>C

1 paper

NM_176822.4

p.I233L

c.697A>T

1 paper

NM_176822.4

p.T190A

c.568A>G

1 paper

NM_176822.4

p.G242D

c.725G>A

1 paper

NM_176822.4

p.I244F

c.730A>T

3 papers

NM_176822.4

p.V179M

c.535G>A

1 paper

NM_176822.4

p.D259N

c.775G>A

1 paper

NM_176822.4

p.L165L

c.493T>C