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

1–12 of 48 variants

5 papers

NM_001146028.2

p.A502insFs

c.1504_1505insG

3 papers

NM_001146028.2

p.A502fs

c.1504_1505fs

3 papers

NM_001146028.2

p.A502fs

c.1504_1505fs

2 papers

NM_001146028.2

p.Y141H

c.421T>C

2 papers

NM_001146028.2

p.S165F

c.494C>T

1 paper

NM_001146028.2

p.M1insFs

c.1dupA

1 paper

NM_001146028.2

p.G5D

c.14G>A

1 paper

NM_001146028.2

p.A24S

c.70G>T

1 paper

NM_001146028.2

p.R70C

c.208C>T

1 paper

NM_001146028.2

p.V75G

c.224T>G

1 paper

NM_001146028.2

p.Y83*

c.249C>G

1 paper

NM_001146028.2

p.Y83*

c.249C>A