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.Q2insFs

c.4dupC

Surrounding Variants

1 paper

NM_032578.4

p.M1V

c.1A>G

1 paper

NM_032578.4

p.M1delFs

c.2delT

1 paper

NM_032578.4

p.D4V

c.11A>T

1 paper

NM_032578.4

p.S13P

c.37T>C

1 paper

NM_032578.4

p.E18K

c.52G>A

1 paper

NM_032578.4

p.E18Q

c.52G>C

1 paper

NM_032578.4

p.E18D

c.54G>C

1 paper

NM_032578.4

p.E18D

c.54G>T

27 papers

NM_032578.4

p.Y20C

c.59A>G

1 paper

NM_032578.4

p.Y20*

c.60T>A

3 papers

NM_032578.4

p.A22G

c.65C>G

1 paper

NM_032578.4

p.R27G

c.79C>G