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.V105_L112delFs

c.313_334del22

Surrounding Variants

1 paper

NM_145064.3

p.R108G

c.322C>G

1 paper

NM_145064.3

p.V105A

c.314T>C

1 paper

NM_145064.3

p.D104E

c.312T>G

1 paper

NM_145064.3

p.D104E

c.312T>A

1 paper

NM_145064.3

p.F102L

c.306C>G

1 paper

NM_145064.3

p.K99_K101delFs

c.296_302del7

1 paper

NM_145064.3

p.K98R

c.293A>G

1 paper

NM_145064.3

p.F97V

c.289T>G

1 paper

NM_145064.3

p.P89_D94delFs

c.266_282del17

2 papers

NM_145064.3

p.K83N

c.249G>T

2 papers

NM_145064.3

p.K83N

c.249G>C

1 paper

NM_145064.3

p.E74G

c.221A>G