Varaico: Literature-Extracted Genetic Variants

STAC3

91 papers

RefSeq Summary

The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich d...

Pfam Domains

C1_1aa 90–145UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

STAC2_u1aa 146–253UCSCUnstructured on SH3 and cysteine-rich domain-containing protein 2

SH3_1aa 253–298UCSCSH3 domain

Gene Aliases

HGNC Name

SH3 and cysteine rich domain 3

HGNC Alias Symbol

MGC2793

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_145064.3

p.F295L

c.885T>A

Surrounding Variants

2 papers

NM_145064.3

p.F295L

c.885T>G

2 papers

NM_145064.3

p.F295L

c.883T>C

1 paper

NM_145064.3

p.F296_I302del7

c.886_905del21

7 papers

NM_145064.3

p.K288*

c.862A>T

1 paper

NM_145064.3

p.R305W

c.913C>T

1 paper

NM_145064.3

p.R286_G287Splc

c.859-4C>G

1 paper

NM_145064.3

p.H311R

c.932A>G

1 paper

NM_145064.3

p.R312H

c.935G>A

1 paper

NM_145064.3

p.T314M

c.941C>T

1 paper

NM_145064.3

p.V318E

c.953T>A

1 paper

NM_001286256.2

p.T288S

c.862A>T

2 papers

NM_145064.3

p.K329N

c.987G>T