Varaico: Literature-Extracted Genetic Variants

JPH4

53 papers

RefSeq Summary

This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/...

Pfam Domains

MORNaa 15–34UCSCMORN repeat

MORNaa 39–60UCSCMORN repeat

MORNaa 61–82UCSCMORN repeat

MORNaa 83–105UCSCMORN repeat

MORNaa 106–128UCSCMORN repeat

MORNaa 129–149UCSCMORN repeat

Gene Aliases

HGNC Name

junctophilin 4

HGNC Previous Symbol

JPHL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001146028.2

p.L224L

c.670C>T

Surrounding Variants

1 paper

NM_001146028.2

p.A214T

c.640G>A

1 paper

NM_001146028.2

p.E280K

c.838G>A

2 papers

NM_001146028.2

p.S165F

c.494C>T

1 paper

NM_001146028.2

p.D164E

c.492T>G

1 paper

NM_001146028.2

p.D164E

c.492T>A

1 paper

NM_001146028.2

p.V296F

c.886G>T

1 paper

NM_001146028.2

p.Q151P

c.452A>C

2 papers

NM_001146028.2

p.Y141H

c.421T>C

1 paper

NM_001146028.2

p.D324Y

c.970G>T

1 paper

NM_001146028.2

p.D324D

c.972C>T

1 paper

NM_001146028.2

p.K355delFs

c.1064delT

1 paper

NM_001146028.2

p.R377C

c.1129C>T