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.L830_S831insFs

c.2490_2491insT

Surrounding Variants

1 paper

NM_032578.4

p.P835T

c.2503C>A

2 papers

NM_032578.4

p.P826T

c.2476C>A

1 paper

NM_032578.4

p.A839D

c.2516C>A

3 papers

NM_032578.4

p.P841T

c.2521C>A

1 paper

NM_032578.4

p.P816L

c.2447C>T

1 paper

NM_032578.4

p.I815V

c.2443A>G

1 paper

NM_032578.4

p.P814T

c.2440C>A

1 paper

NM_032578.4

p.P814S

c.2440C>T

1 paper

NM_032578.4

p.G847V

c.2540G>T

1 paper

NM_032578.4

p.S851G

c.2551A>G

2 papers

NM_032578.4

p.R810C

c.2428C>T

1 paper

NM_032578.4

p.Q806P

c.2417A>C