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.E409E

c.1227G>A

Surrounding Variants

1 paper

NM_001750.7

p.A401E

c.1202C>A

1 paper

NM_001750.7

p.S420A

c.1258T>G

2 papers

NM_001042440.5

p.L383*

c.1148T>A

2 papers

NM_001042440.5

p.L383*

c.1148T>G

2 papers

NM_001750.7

p.E441*

c.1321G>T

1 paper

NM_001750.7

p.K442R

c.1325A>G

1 paper

NM_001042440.5

p.K403_P404Splc

c.1209+2T>G

1 paper

NM_001042440.5

p.P404fs

c.1210_1211fs

1 paper

NM_001750.7

p.D453delFs

c.1358_1359delAT

1 paper

NM_001750.7

p.R393fs

c.1177_1178fs

1 paper

NM_001750.7

p.R393insFs

c.1177dupC

1 paper

NM_001750.7

p.E387G

c.1160A>G