Varaico: Literature-Extracted Genetic Variants

JPH3

162 papers

RefSeq Summary

Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular i...

Pfam Domains

MORNaa 15–37UCSCMORN repeat

MORNaa 39–60UCSCMORN repeat

MORNaa 61–80UCSCMORN repeat

MORNaa 107–129UCSCMORN repeat

MORNaa 130–152UCSCMORN repeat

MORNaa 288–310UCSCMORN repeat

Gene Aliases

HGNC Name

junctophilin 3

HGNC Previous Symbol

TNRC22

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020655.4

p.E534D

c.1602G>C

Surrounding Variants

1 paper

NM_020655.4

p.E534D

c.1602G>T

2 papers

NM_020655.4

p.A536T

c.1606G>A

2 papers

NM_020655.4

p.G537R

c.1609G>A

2 papers

NM_020655.4

p.G537R

c.1609G>C

1 paper

NM_020655.4

p.G537A

c.1610G>C

1 paper

NM_020655.4

p.S530G

c.1588A>G

1 paper

NM_020655.4

p.R543H

c.1628G>A

1 paper

NM_020655.4

p.A523A

c.1569C>T

1 paper

NM_020655.4

p.G549D

c.1646G>A

1 paper

NM_020655.4

p.Q516H

c.1548G>C

1 paper

NM_020655.4

p.R559Q

c.1676G>A

1 paper

NM_020655.4

p.G567R

c.1699G>A