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.V211_I213del3

c.631_638del9

Surrounding Variants

1 paper

NM_032578.4

p.V211I

c.631G>A

4 papers

NM_032578.4

p.I213V

c.637A>G

1 paper

NM_032578.4

p.E207G

c.620A>G

1 paper

NM_032578.4

p.R206*

c.616C>T

3 papers

NM_032578.4

p.E204V

c.611A>T

5 papers

NM_032578.4

p.A217E

c.650C>A

1 paper

NM_032578.4

p.T219P

c.655A>C

1 paper

NM_032578.4

p.D221G

c.662A>G

2 papers

NM_032578.4

p.D221V

c.662A>T

1 paper

NM_032578.4

p.S200T

c.598T>A

1 paper

NM_032578.4

p.S200P

c.598T>C

1 paper

NM_032578.4

p.H226delFs

c.677_678delAC