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

3 papers

NM_001750.7

p.E172fs

c.514_515fs

Surrounding Variants

4 papers

NM_001750.7

p.R169_S170insFs

c.507_508insA

1 paper

NM_001750.7

p.V167D

c.500T>A

1 paper

NM_001750.7

p.V167A

c.500T>C

4 papers

NM_001042440.5

p.K142*

c.424A>T

1 paper

NM_001750.7

p.T156K

c.467C>A

5 papers

NM_001750.7

p.S154fs

c.460_461fs

1 paper

NM_001750.7

p.K151_S154insFs

c.452_461dup10

1 paper

NM_001750.7

p.L149L

c.447A>G

1 paper

NM_001750.7

p.L149V

c.445C>G

1 paper

NM_001750.7

p.E142K

c.424G>A

1 paper

NM_001750.7

p.V130I

c.388G>A

1 paper

NM_001750.7

p.S128F

c.383C>T