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

5 papers

NM_001146028.2

p.A502insFs

c.1504_1505insG

Surrounding Variants

1 paper

NM_001146028.2

p.A502delFs

c.1504delC

3 papers

NM_001146028.2

p.A502fs

c.1504_1505fs

1 paper

NM_001146028.2

p.A502delFs

c.1505delG

3 papers

NM_001146028.2

p.A502fs

c.1504_1505fs

1 paper

NM_001146028.2

p.A504T

c.1510G>A

1 paper

NM_001146028.2

p.G500R

c.1498G>C

1 paper

NM_001146028.2

p.G500R

c.1498G>A

1 paper

NM_001146028.2

p.W499fs

c.1495_1496fs

1 paper

NM_001146028.2

p.W499S

c.1496G>C

1 paper

NM_001146028.2

p.P488S

c.1462C>T

1 paper

NM_001146028.2

p.P479L

c.1436C>T

1 paper

NM_001146028.2

p.G528R

c.1582G>C