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.L81L

c.243G>A

Surrounding Variants

1 paper

NM_032578.4

p.I83delFs

c.248delT

1 paper

NM_032578.4

p.I83fs

c.247_248fs

1 paper

NM_032578.4

p.R80*

c.238A>T

1 paper

NM_032578.4

p.N84S

c.251A>G

1 paper

NM_032578.4

p.P87A

c.259C>G

1 paper

NM_032578.4

p.E74K

c.220G>A

1 paper

NM_032578.4

p.E70G

c.209A>G

1 paper

NM_032578.4

p.T94S

c.280A>T

1 paper

NM_032578.4

p.T94S

c.281C>G

1 paper

NM_032578.4

p.E71del1

c.211_213delGAA

1 paper

NM_032578.4

p.A65G

c.194C>G

1 paper

NM_032578.4

p.R99R

c.297A>T