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.E936Q

c.2806G>C

Surrounding Variants

1 paper

NM_032578.4

p.E936K

c.2806G>A

1 paper

NM_032578.4

p.I943M

c.2829T>G

1 paper

NM_032578.4

p.R950*

c.2848A>T

1 paper

NM_032578.4

p.R922C

c.2764C>T

1 paper

NM_032578.4

p.K952R

c.2855A>G

1 paper

NM_032578.4

p.R919H

c.2756G>A

4 papers

NM_032578.4

p.F954L

c.2860T>C

4 papers

NM_032578.4

p.F954L

c.2862C>A

4 papers

NM_032578.4

p.F954L

c.2862C>G

10 papers

NM_032578.4

p.R955W

c.2863C>T

6 papers

NM_032578.4

p.R955Q

c.2864G>A

1 paper

NM_032578.4

p.V956I

c.2866G>A