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.L151*

c.452T>A

Surrounding Variants

5 papers

NM_032578.4

p.K153R

c.458A>G

1 paper

NM_032578.4

p.D156Y

c.466G>T

1 paper

NM_032578.4

p.D156G

c.467A>G

1 paper

NM_032578.4

p.S146C

c.437C>G

1 paper

NM_032578.4

p.D156E

c.468C>A

1 paper

NM_032578.4

p.D156E

c.468C>G

1 paper

NM_032578.4

p.T144A

c.430A>G

1 paper

NM_032578.4

p.E159K

c.475G>A

1 paper

NM_032578.4

p.L161I

c.481C>A

1 paper

NM_032578.4

p.R137S

c.411G>C

1 paper

NM_032578.4

p.R137S

c.411G>T

1 paper

NM_032578.4

p.A135G

c.404C>G