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

1–12 of 78 variants

44 papers

NM_145064.3

p.W284S

c.851G>C

7 papers

NM_145064.3

p.K288*

c.862A>T

6 papers

NM_145064.3

p.I144_P145Splc

c.432+4A>T

4 papers

NM_145064.3

p.L255_Y256delFs

c.763_766del4

3 papers

NM_145064.3

p.Q332_I333Splc

c.997-1G>T

2 papers

NM_145064.3

p.K83N

c.249G>T

2 papers

NM_145064.3

p.K83N

c.249G>C

2 papers

NM_145064.3

p.M187T

c.560T>C

2 papers

NM_145064.3

p.L255fs

c.763_764fs

2 papers

NM_145064.3

p.F295L

c.883T>C

2 papers

NM_145064.3

p.F295L

c.885T>G

2 papers

NM_145064.3

p.F295L

c.885T>A