Varaico: Literature-Extracted Genetic Variants

CAST

197 papers

RefSeq Summary

The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains...

Pfam Domains

Calpain_inhibaa 81–221UCSCCalpain inhibitor

Calpain_inhibaa 196–319UCSCCalpain inhibitor

Calpain_inhibaa 333–461UCSCCalpain inhibitor

Calpain_inhibaa 476–599UCSCCalpain inhibitor

Gene Aliases

HGNC Name

calpastatin

HGNC Previous Symbol

MIR583HG

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001750.7

p.D647N

c.1939G>A

Surrounding Variants

1 paper

NM_001042440.5

p.S605N

c.1814G>A

1 paper

NM_001750.7

p.Q645*

c.1933C>T

1 paper

NM_001750.7

p.A653T

c.1957G>A

1 paper

NM_001750.7

p.S660R

c.1978A>C

1 paper

NM_001750.7

p.S660R

c.1980T>A

1 paper

NM_001750.7

p.S660R

c.1980T>G

1 paper

NM_001750.7

p.G662A

c.1985G>C

1 paper

NM_001750.7

p.A684T

c.2050G>A

1 paper

NM_001750.7

p.A684V

c.2051C>T

1 paper

NM_001750.7

p.Y701F

c.2102A>T

1 paper

NM_001750.7

p.T754T

c.2262A>C

1 paper

NM_001750.7

p.A636delFs

c.1907delC