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.E272K

c.814G>A

Surrounding Variants

1 paper

NM_145064.3

p.P269R

c.806C>G

1 paper

NM_145064.3

p.D278_D279del1

c.834_836delTCA

1 paper

NM_145064.3

p.D279del1

c.835_836delGTC

45 papers

NM_145064.3

p.W284S

c.851G>C

NM_001286257.2

p.W98S

c.293G>C

1 paper

NM_145064.3

p.W284*

c.851G>A

1 paper

NM_145064.3

p.W284*

c.852G>A

1 paper

NM_145064.3

p.R286_G287Splc

c.858+6A>G

1 paper

NM_145064.3

p.R286_G287Splc

c.859-4C>G

7 papers

NM_145064.3

p.K288*

c.862A>T

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