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.G634R

c.1900G>C

Surrounding Variants

2 papers

NM_032578.4

p.G634R

c.1900G>A

1 paper

NM_032578.4

p.R631K

c.1892G>A

3 papers

NM_032578.4

p.E630K

c.1888G>A

1 paper

NM_032578.4

p.Q629P

c.1886A>C

6 papers

NM_032578.4

p.F628L

c.1884C>A

7 papers

NM_032578.4

p.F628L

c.1884C>G

6 papers

NM_032578.4

p.F628L

c.1882T>C

1 paper

NM_032578.4

p.D626N

c.1876G>A

1 paper

NM_032578.4

p.T620A

c.1858A>G

3 papers

NM_032578.4

p.E614K

c.1840G>A

1 paper

NM_032578.4

p.S612F

c.1835C>T

4 papers

NM_032578.4

p.A611T

c.1831G>A