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

3 papers

NM_032578.4

p.T746A

c.2236A>G

Surrounding Variants

1 paper

NM_032578.4

p.L747S

c.2240T>C

2 papers

NM_032578.4

p.P743L

c.2228C>T

1 paper

NM_032578.4

p.S749N

c.2246G>A

1 paper

NM_032578.4

p.S762N

c.2285G>A

1 paper

NM_032578.4

p.P728H

c.2183C>A

1 paper

NM_032578.4

p.P728delFs

c.2184delC

2 papers

NM_032578.4

p.P768delFs

c.2304delC

2 papers

NM_032578.4

p.H767Q

c.2301C>A

2 papers

NM_032578.4

p.H767Q

c.2301C>G

1 paper

NM_032578.4

p.L720W

c.2159T>G

1 paper

NM_032578.4

p.S774Y

c.2321C>A

1 paper

NM_032578.4

p.S774F

c.2321C>T