Varaico: Literature-Extracted Genetic Variants

SHISA5

22 papers

RefSeq Summary

This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splici...

Pfam Domains

Shisa_Naa 28–74UCSCShisa, N-terminal domain

Shisa5_Naa 106–143UCSCShisa-5 N-terminal domain

Gene Aliases

HGNC Name

shisa family member 5

HGNC Alias Symbols

SCOTIN; hShisa5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016479.6

p.S151P

c.451T>C

Surrounding Variants

1 paper

NM_016479.6

p.P144P

c.432G>A

1 paper

NM_016479.6

p.A157D

c.470C>A

1 paper

NM_016479.6

p.S173insFs

c.519dupC

1 paper

NM_016479.6

p.P190S

c.568C>T

1 paper

NM_016479.6

p.E211K

c.631G>A

1 paper

NM_016479.6

p.A219V

c.656C>T

1 paper

NM_016479.6

p.A218_Y221del4

c.652_662del12

1 paper

NM_016479.6

p.P236L

c.707C>T

1 paper

NM_016479.6

p.L240F

c.718C>T

1 paper

NM_016479.6

p.S104L

c.311C>T

1 paper

NM_016479.6

p.P97_G98delFs

c.290_293del4

1 paper

NM_016479.6

p.V86G

c.257T>G