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

1–12 of 124 variants

6 papers

NM_001750.7

p.I203insFs

c.607dupA

6 papers

NM_001750.7

p.E584delFs

c.1750delG

5 papers

NM_001750.7

p.S154fs

c.460_461fs

4 papers

NM_001750.7

p.R169_S170insFs

c.507_508insA

4 papers

NM_001042440.5

p.K142*

c.424A>T

4 papers

NM_001750.7

p.I203fs

c.607_608fs

4 papers

NM_001750.7

p.P301L

c.902C>T

4 papers

NM_001750.7

p.T507_L508insA

c.1519_1523ins3

4 papers

NM_001042440.5

p.V584delFs

c.1750delG

4 papers

NM_001042440.5

p.V584fs

c.1750_1751fs

3 papers

NM_001750.7

p.E172fs

c.514_515fs

3 papers

NM_001042440.5

p.V182F

c.544G>T