Varaico: Literature-Extracted Genetic Variants

MYBPC1

125 papers

RefSeq Summary

This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands i...

Pfam Domains

I-setaa 58–159UCSCImmunoglobulin I-set domain

THBaa 209–242UCSCTri-helix bundle domain

I-setaa 253–337UCSCImmunoglobulin I-set domain

I-setaa 342–431UCSCImmunoglobulin I-set domain

I-setaa 433–508UCSCImmunoglobulin I-set domain

I-setaa 530–616UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

myosin binding protein C1

HGNC Alias Symbol

ssMyBP-C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002465.4

p.P580S

c.1738C>T

Surrounding Variants

1 paper

NM_002465.4

p.G576R

c.1726G>A

1 paper

NM_002465.4

p.A529V

c.1586C>T

2 papers

NM_002465.4

p.H506Q

c.1518C>A

3 papers

NM_002465.4

p.H506Q

c.1518C>G

1 paper

NM_002465.4

p.S499T

c.1496G>C

1 paper

NM_001254722.3

p.K399K

c.1197A>G

1 paper

NM_002465.4

p.K422T

c.1265A>C

1 paper

NM_002465.4

p.R417K

c.1250G>A

1 paper

NM_002465.4

p.G403A

c.1208G>C

1 paper

NM_002465.4

p.G403C

c.1207G>T

1 paper

NM_002465.4

p.G381_E382insATC

c.1141_1145ins9

1 paper

NM_002465.4

p.C380Y

c.1139G>A