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.T1072_L1073delFs

c.3214_3217del4

Surrounding Variants

1 paper

NM_002465.4

p.T1072fs

c.3214_3215fs

1 paper

NM_002465.4

p.N1074K

c.3222C>A

1 paper

NM_002465.4

p.N1074K

c.3222C>G

1 paper

NM_002465.4

p.A1065V

c.3194C>T

1 paper

NM_002465.4

p.T1027A

c.3079A>G

1 paper

NM_002465.4

p.M1017T

c.3050T>C

1 paper

NM_002465.4

p.I1004Fs

c.3011delinsACFs

1 paper

NM_002465.4

p.L1002M

c.3004T>A

1 paper

NM_002465.4

p.E990Fs

c.2969delinsACFs

1 paper

NM_002465.4

p.M983_E984Splc

c.2950-7C>T

1 paper

NM_002465.4

p.T1086_W1087delFs

c.3256_3259del4

1 paper

NM_002465.4

p.V1092I

c.3274G>A