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

15 papers

NM_032578.4

p.Q529*

c.1585C>T

Surrounding Variants

2 papers

NM_032578.4

p.V532M

c.1594G>A

1 paper

NM_032578.4

p.G522S

c.1564G>A

1 paper

NM_032578.4

p.E508K

c.1522G>A

1 paper

NM_032578.4

p.S549S

c.1647T>C

1 paper

NM_032578.4

p.P562S

c.1684C>T

1 paper

NM_032578.4

p.H564L

c.1691A>T

1 paper

NM_032578.4

p.P574L

c.1721C>T

1 paper

NM_032578.4

p.L578L

c.1734C>T

1 paper

NM_032578.4

p.V581L

c.1741G>C

2 papers

NM_032578.4

p.N586S

c.1757A>G

2 papers

NM_032578.4

p.S591G

c.1771A>G

1 paper

NM_032578.4

p.S591T

c.1772G>C