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

2 papers

NM_001042440.5

p.G191*

c.571G>T

Surrounding Variants

3 papers

NM_001042440.5

p.V182F

c.544G>T

1 paper

NM_001750.7

p.T218T

c.654C>G

1 paper

NM_001750.7

p.T218A

c.652A>G

1 paper

NM_001750.7

p.K214insFs

c.642dupG

2 papers

NM_001042440.5

p.E172fs

c.514_515fs

2 papers

NM_001750.7

p.K212insFs

c.636dupA

2 papers

NM_001750.7

p.M236delFs

c.706delA

3 papers

NM_001042440.5

p.I203insFs

c.607dupA

2 papers

NM_001042440.5

p.I203fs

c.607_608fs

1 paper

NM_001750.7

p.D245N

c.733G>A

1 paper

NM_001750.7

p.P263S

c.787C>T

1 paper

NM_001750.7

p.I284delFs

c.852delT