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

13 papers

NM_032578.4

p.S803R

c.2407A>C

Surrounding Variants

13 papers

NM_032578.4

p.S803R

c.2409C>A

14 papers

NM_032578.4

p.S803R

c.2409C>G

3 papers

NM_032578.4

p.G804R

c.2410G>A

2 papers

NM_032578.4

p.G804R

c.2410G>C

1 paper

NM_032578.4

p.G804*

c.2410G>T

1 paper

NM_032578.4

p.S800fs

c.2398_2399fs

1 paper

NM_032578.4

p.Q806P

c.2417A>C

2 papers

NM_032578.4

p.R810C

c.2428C>T

1 paper

NM_032578.4

p.P794Q

c.2381C>A

1 paper

NM_032578.4

p.P794L

c.2381C>T

1 paper

NM_032578.4

p.P814T

c.2440C>A

1 paper

NM_032578.4

p.P814S

c.2440C>T