Varaico: Literature-Extracted Genetic Variants

Gene:CAPN11
Variant:p.D344N

CAPN11

48 papers

RefSeq Summary

Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subun...

Pfam Domains

Peptidase_C2aa 80–376UCSCCalpain family cysteine protease
Calpain_IIIaa 395–539UCSCCalpain large subunit, domain III

Gene Aliases

HGNC Name

calpain 11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007058.4
p.D344N
c.1030G>A
Surrounding Variants
1 paper
NM_007058.4
p.D364A
c.1091A>C
1 paper
NM_007058.4
p.S383C
c.1148C>G
1 paper
NM_007058.4
p.Y389*
c.1167C>A
1 paper
NM_007058.4
p.Y389*
c.1167C>G
1 paper
NM_007058.4
p.M312I
c.936G>A
1 paper
NM_007058.4
p.M312I
c.936G>C
1 paper
NM_007058.4
p.M312I
c.936G>T
1 paper
NM_007058.4
p.G406delFs
c.1216delG
1 paper
NM_007058.4
p.G407fs
c.1219_1220fs
1 paper
NM_007058.4
p.A297T
c.889G>A
1 paper
NM_007058.4
p.T414ins1
c.1241_1242insCCC
1 paper
NM_007058.4
p.T414T
c.1242G>T
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