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

1 paper

NM_145064.3

p.M187K

c.560T>A

Surrounding Variants

2 papers

NM_145064.3

p.M187T

c.560T>C

1 paper

NM_145064.3

p.V185A

c.554T>C

1 paper

NM_145064.3

p.R173H

c.518G>A

1 paper

NM_145064.3

p.R173C

c.517C>T

1 paper

NM_145064.3

p.D167_L168insFs

c.501_502ins7

1 paper

NM_145064.3

p.A151D

c.452C>A

1 paper

NM_145064.3

p.G147S

c.439G>A

1 paper

NM_145064.3

p.P145S

c.433C>T

1 paper

NM_145064.3

p.E212G

c.635A>G

1 paper

NM_145064.3

p.A214V

c.641C>T

1 paper

NM_001286257.2

p.E31delFs

c.93delC

6 papers

NM_145064.3

p.I144_P145Splc

c.432+4A>T