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.G777W

c.2329G>T

Surrounding Variants

1 paper

NM_032578.4

p.G777fs

c.2329_2330fs

1 paper

NM_032578.4

p.L778F

c.2332C>T

1 paper

NM_032578.4

p.S774Y

c.2321C>A

1 paper

NM_032578.4

p.S774F

c.2321C>T

1 paper

NM_032578.4

p.N782D

c.2344A>G

1 paper

NM_032578.4

p.P784R

c.2351C>G

2 papers

NM_032578.4

p.H767Q

c.2301C>A

2 papers

NM_032578.4

p.H767Q

c.2301C>G

2 papers

NM_032578.4

p.P768delFs

c.2304delC

1 paper

NM_032578.4

p.S762N

c.2285G>A

1 paper

NM_032578.4

p.P794Q

c.2381C>A

1 paper

NM_032578.4

p.P794L

c.2381C>T