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.D58V

c.173A>T

Surrounding Variants

2 papers

NM_032578.4

p.Q57H

c.171A>T

1 paper

NM_032578.4

p.D59N

c.175G>A

4 papers

NM_032578.4

p.D62A

c.185A>C

1 paper

NM_032578.4

p.G54D

c.161G>A

1 paper

NM_032578.4

p.G54S

c.160G>A

1 paper

NM_032578.4

p.A65G

c.194C>G

1 paper

NM_032578.4

p.S48P

c.142T>C

1 paper

NM_032578.4

p.E71del1

c.211_213delGAA

3 papers

NM_032578.4

p.P47L

c.140C>T

1 paper

NM_032578.4

p.E70G

c.209A>G

1 paper

NM_032578.4

p.E74K

c.220G>A

1 paper

NM_032578.4

p.N40I

c.119A>T