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.K963T

c.2888A>C

Surrounding Variants

1 paper

NM_002465.4

p.L957F

c.2869C>T

1 paper

NM_002465.4

p.A956T

c.2866G>A

1 paper

NM_002465.4

p.I947T

c.2840T>C

2 papers

NM_002465.4

p.Q943*

c.2827C>T

1 paper

NM_002465.4

p.Q919P

c.2756A>C

1 paper

NM_002465.4

p.M983_E984Splc

c.2950-7C>T

1 paper

NM_002465.4

p.E990Fs

c.2969delinsACFs

1 paper

NM_002465.4

p.D888G

c.2663A>G

1 paper

NM_002465.4

p.L1002M

c.3004T>A

1 paper

NM_002465.4

p.I1004Fs

c.3011delinsACFs

1 paper

NM_002465.4

p.M1017T

c.3050T>C

1 paper

NM_002465.4

p.T1027A

c.3079A>G