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

1–12 of 389 variants

27 papers

NM_032578.4

p.Y20C

c.59A>G

26 papers

NM_032578.4

p.P1112L

c.3335C>T

15 papers

NM_032578.4

p.Q529*

c.1585C>T

14 papers

NM_032578.4

p.S803R

c.2409C>G

13 papers

NM_032578.4

p.S803R

c.2407A>C

13 papers

NM_032578.4

p.S803R

c.2409C>A

13 papers

NM_032578.4

p.P1135T

c.3403C>A

12 papers

NM_032578.4

p.S707N

c.2120G>A

11 papers

NM_032578.4

p.S691N

c.2072G>A

11 papers

NM_032578.4

p.L1161I

c.3481C>A

10 papers

NM_032578.4

p.R955W

c.2863C>T

10 papers

NM_032578.4

p.V1195M

c.3583G>A