Varaico: Literature-Extracted Genetic Variants

EPPK1

274 papers

RefSeq Summary

The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologo...

Pfam Domains

Plectinaa 74–112UCSCPlectin repeat

Plectinaa 150–188UCSCPlectin repeat

Plectinaa 318–356UCSCPlectin repeat

Plectinaa 394–432UCSCPlectin repeat

Plectinaa 605–643UCSCPlectin repeat

Plectinaa 643–681UCSCPlectin repeat

Gene Aliases

HGNC Name

epiplakin 1

HGNC Alias Symbol

EPIPL1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 484 variants

14 papers

NM_031308.4

p.R2239H

c.6716G>A

10 papers

NM_031308.4

p.D2378H

c.7132G>C

9 papers

NM_031308.4

p.R2364Q

c.7091G>A

8 papers

NM_031308.4

p.K544E

c.1630A>G

7 papers

NM_031308.4

p.L2081V

c.6241C>G

6 papers

NM_031308.4

p.D202N

c.604G>A

6 papers

NM_031308.4

p.T1507A

c.4519A>G

3 papers

NM_031308.4

p.F503I

c.1507T>A

3 papers

NM_031308.4

p.D750N

c.2248G>A

3 papers

NM_031308.4

p.D1146G

c.3437A>G

3 papers

NM_031308.4

p.R1409Q

c.4226G>A

3 papers

NM_031308.4

p.D1654N

c.4960G>A