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.S243R

c.727A>C

Surrounding Variants

1 paper

NM_032578.4

p.A242V

c.725C>T

1 paper

NM_032578.4

p.S243R

c.729T>A

1 paper

NM_032578.4

p.S243R

c.729T>G

1 paper

NM_032578.4

p.A245G

c.734C>G

1 paper

NM_032578.4

p.Q240R

c.719A>G

3 papers

NM_032578.4

p.A238T

c.712G>A

1 paper

NM_032578.4

p.R236H

c.707G>A

1 paper

NM_032578.4

p.T250P

c.748A>C

1 paper

NM_032578.4

p.S254P

c.760T>C

1 paper

NM_032578.4

p.P256A

c.766C>G

1 paper

NM_032578.4

p.S257*

c.770C>G

1 paper

NM_032578.4

p.H226delFs

c.677_678delAC