Varaico: Literature-Extracted Genetic Variants

CAPN13

79 papers

RefSeq Summary

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ub...

Pfam Domains

Peptidase_C2aa 35–331UCSCCalpain family cysteine protease

Calpain_IIIaa 352–474UCSCCalpain large subunit, domain III

CAPN13-like_C_EFhaa 574–645UCSCCalpain-13-like, C-terminal EF-hand

Gene Aliases

HGNC Name

calpain 13

HGNC Alias Symbol

FLJ23523

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_144575.3

p.G532Splc

c.1594+1G>A

Surrounding Variants

1 paper

NM_144575.3

p.Q560K

c.1678C>A

1 paper

NM_144575.3

p.R565*

c.1693C>T

1 paper

NM_144575.3

p.H572Y

c.1714C>T

1 paper

NM_144575.3

p.A510T

c.1528G>A

1 paper

NM_144575.3

p.F506L

c.1518C>G

1 paper

NM_144575.3

p.F506L

c.1518C>A

1 paper

NM_144575.3

p.F506L

c.1516T>C

1 paper

NM_144575.3

p.K493_G494Splc

c.1480-70C>A

1 paper

NM_144575.3

p.K493_G494Splc

c.1479+129T>C

1 paper

NM_144575.3

p.K493_G494Splc

c.1479+8T>G

3 papers

NM_144575.3

p.I596T

c.1787T>C

1 paper

NM_144575.3

p.S485R

c.1455C>G