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

2 papers

NM_032578.4

p.P268S

c.802C>T

Surrounding Variants

2 papers

NM_032578.4

p.P269L

c.806C>T

1 paper

NM_032578.4

p.P264A

c.790C>G

1 paper

NM_032578.4

p.R276W

c.826C>T

1 paper

NM_032578.4

p.R276Q

c.827G>A

1 paper

NM_032578.4

p.R278G

c.832A>G

1 paper

NM_032578.4

p.S257*

c.770C>G

1 paper

NM_032578.4

p.P256A

c.766C>G

1 paper

NM_032578.4

p.S254P

c.760T>C

1 paper

NM_032578.4

p.R285*

c.853C>T

1 paper

NM_032578.4

p.R285Q

c.854G>A

1 paper

NM_032578.4

p.T250P

c.748A>C

1 paper

NM_032578.4

p.Q287*

c.859C>T