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.P175delFs

c.525delT

Surrounding Variants

1 paper

NM_032578.4

p.R176C

c.526C>T

1 paper

NM_032578.4

p.C178Y

c.533G>A

1 paper

NM_032578.4

p.R172T

c.515G>C

1 paper

NM_032578.4

p.E186Q

c.556G>C

1 paper

NM_032578.4

p.E186*

c.556G>T

1 paper

NM_032578.4

p.Q188*

c.562C>T

1 paper

NM_032578.4

p.L161I

c.481C>A

1 paper

NM_032578.4

p.K190N

c.570A>C

1 paper

NM_032578.4

p.K190N

c.570A>T

1 paper

NM_032578.4

p.V191A

c.572T>C

1 paper

NM_032578.4

p.E159K

c.475G>A

1 paper

NM_032578.4

p.Q193R

c.578A>G