Varaico: Literature-Extracted Genetic Variants

PLEC

667 papers

RefSeq Summary

Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of th...

Pfam Domains

S10_plectinaa 7–101UCSCPlectin/S10 domain

CHaa 69–173UCSCCalponin homology (CH) domain

CHaa 185–291UCSCCalponin homology (CH) domain

Spectrin_4aa 417–516UCSCSpectrin-like repeat

Spectrin_3aa 752–819UCSCSpectrin-like repeat

SH3_10aa 820–886UCSCSH3 domain

Gene Aliases

HGNC Name

plectin

HGNC Previous Symbols

EBS1; PLEC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_201384.3

p.G4460R

c.13378G>A

Surrounding Variants

3 papers

NM_000445.5

p.E4492fs

c.13474_13475fs

NM_201384.3

p.E4465fs

c.13393_13394fs

7 papers

NM_000445.5

p.G4487_E4492insFs

c.13459_13474dup16

NM_201384.3

p.G4460_E4465insFs

c.13378_13393dup16

1 paper

NM_000445.5

p.E4492fs

c.13474_13475fs

1 paper

NM_201378.4

p.K4433*

c.13297A>T

1 paper

NM_201384.3

p.K4472_G4473del1

c.13415_13417delCCT

1 paper

NM_000445.5

p.S4472_Y4473del1

c.13415_13417delAGG

1 paper

NM_201384.3

p.K4443E

c.13327A>G

1 paper

NM_201378.4

p.Y4460_S4465insFs

c.13378_13393dup16

1 paper

NM_201384.3

p.V4480I

c.13438G>A

5 papers

NM_201384.3

p.K4433*

c.13297A>T

NM_000445.5

p.K4460*

c.13378A>T

1 paper

NM_201383.3

p.G4486_A4491insFs

c.13458_13473dup16

1 paper

NM_201383.3

p.S4487_G4492insFs

c.13459_13474dup16