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

1–12 of 19 variants

1 paper

NM_016479.6

p.M1V

c.1A>G

1 paper

NM_016479.6

p.P24L

c.71C>T

1 paper

NM_016479.6

p.S59P

c.175T>C

1 paper

NM_016479.6

p.E69Q

c.205G>C

1 paper

NM_016479.6

p.E70V

c.209A>T

1 paper

NM_016479.6

p.A73_V74delFs

c.218_221del4

1 paper

NM_016479.6

p.V86G

c.257T>G

1 paper

NM_016479.6

p.P97_G98delFs

c.290_293del4

1 paper

NM_016479.6

p.S104L

c.311C>T

1 paper

NM_016479.6

p.P144P

c.432G>A

1 paper

NM_016479.6

p.S151P

c.451T>C

1 paper

NM_016479.6

p.A157D

c.470C>A