Varaico: Literature-Extracted Genetic Variants

MYBPC3

1,762 papers

RefSeq Summary

MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle....

Pfam Domains

I-setaa 10–94UCSCImmunoglobulin I-set domain

I-setaa 156–256UCSCImmunoglobulin I-set domain

THBaa 320–353UCSCTri-helix bundle domain

I-setaa 363–449UCSCImmunoglobulin I-set domain

I-setaa 454–538UCSCImmunoglobulin I-set domain

I-setaa 545–628UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

myosin binding protein C3

HGNC Previous Symbol

CMH4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

34 papers

NM_000256.3

p.R1271*

c.3811C>T

Surrounding Variants

1 paper

NM_000256.3

p.V1270_R1271insFs

c.3810_3811ins19

2 papers

NM_000256.3

p.R1271Q

c.3812G>A

2 papers

NM_000256.3

p.V1270G

c.3809T>G

1 paper

NM_000256.3

p.V1270A

c.3809T>C

1 paper

NM_000256.3

p.R1271fs

c.3811_3812fs

1 paper

NM_000256.3

p.R1263_R1271del0

c.3789_3812del24

1 paper

NM_000256.3

p.V1272L

c.3814G>C

3 papers

NM_000256.3

p.V1270M

c.3808G>A

1 paper

NM_000256.3

p.V1272Splc

c.3814+1G>T

3 papers

NM_000256.3

p.V1272Splc

c.3814+1G>A

3 papers

NM_000256.3

p.V1272Splc

c.3814+2T>C

3 papers

NM_000256.3

p.E1269*

c.3805G>T