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.I284delFs

c.852delT

Surrounding Variants

1 paper

NM_001750.7

p.K295R

c.884A>G

1 paper

NM_001750.7

p.G297G

c.891G>T

1 paper

NM_001750.7

p.P301S

c.901C>T

4 papers

NM_001750.7

p.P301L

c.902C>T

1 paper

NM_001750.7

p.K336I

c.1007A>T

1 paper

NM_001042440.5

p.E297K

c.889G>A

1 paper

NM_001750.7

p.E338G

c.1013A>G

1 paper

NM_001750.7

p.T350S

c.1048A>T

1 paper

NM_001750.7

p.P356delFs

c.1067_1068delCA

1 paper

NM_001750.7

p.P263S

c.787C>T

1 paper

NM_001750.7

p.D245N

c.733G>A

2 papers

NM_001042440.5

p.I203fs

c.607_608fs