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.S691T

c.2072G>C

Surrounding Variants

11 papers

NM_032578.4

p.S691N

c.2072G>A

1 paper

NM_032578.4

p.S691I

c.2072G>T

1 paper

NM_032578.4

p.M692T

c.2075T>C

1 paper

NM_032578.4

p.M692I

c.2076G>A

1 paper

NM_032578.4

p.M692I

c.2076G>C

1 paper

NM_032578.4

p.M692I

c.2076G>T

1 paper

NM_032578.4

p.N698S

c.2093A>G

2 papers

NM_032578.4

p.S684C

c.2051C>G

1 paper

NM_032578.4

p.S684F

c.2051C>T

1 paper

NM_032578.4

p.A699V

c.2096C>T

1 paper

NM_032578.4

p.P680L

c.2039C>T

1 paper

NM_032578.4

p.P680S

c.2038C>T