Varaico: Literature-Extracted Genetic Variants

MYPN

299 papers

RefSeq Summary

Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of a...

Pfam Domains

I-setaa 3–64UCSCImmunoglobulin I-set domain

I-setaa 269–358UCSCImmunoglobulin I-set domain

I-setaa 435–532UCSCImmunoglobulin I-set domain

I-setaa 945–1036UCSCImmunoglobulin I-set domain

I-setaa 1073–1163UCSCImmunoglobulin I-set domain

I-setaa 1172–1263UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

myopalladin

HGNC Alias Symbol

MYOP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032578.4

p.G1182S

c.3544G>A

Surrounding Variants

1 paper

NM_032578.4

p.V1183A

c.3548T>C

1 paper

NM_032578.4

p.P1188H

c.3563C>A

1 paper

NM_032578.4

p.R1194C

c.3580C>T

2 papers

NM_032578.4

p.R1194H

c.3581G>A

1 paper

NM_032578.4

p.R1194L

c.3581G>T

10 papers

NM_032578.4

p.V1195M

c.3583G>A

1 paper

NM_032578.4

p.G1197S

c.3589G>A

1 paper

NM_032578.4

p.P1199S

c.3595C>T

1 paper

NM_032578.4

p.D1208G

c.3623A>G

1 paper

NM_032578.4

p.D1208E

c.3624C>A

1 paper

NM_032578.4

p.D1208E

c.3624C>G

1 paper

NM_032578.4

p.T1211T

c.3633C>T