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

11 papers

NM_032578.4

p.L1161I

c.3481C>A

Surrounding Variants

1 paper

NM_032578.4

p.V1164fs

c.3490_3491fs

1 paper

NM_032578.4

p.V1164A

c.3491T>C

1 paper

NM_032578.4

p.F1157fs

c.3469_3470fs

2 papers

NM_032578.4

p.G1153R

c.3457G>A

2 papers

NM_032578.4

p.G1153R

c.3457G>C

1 paper

NM_032578.4

p.T1152I

c.3455C>T

1 paper

NM_032578.4

p.A1148S

c.3442G>T

2 papers

NM_032578.4

p.I1147N

c.3440T>A

2 papers

NM_032578.4

p.A1141T

c.3421G>A

1 paper

NM_032578.4

p.R1139H

c.3416G>A

13 papers

NM_032578.4

p.P1135T

c.3403C>A

1 paper

NM_032578.4

p.E1125K

c.3373G>A