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.R4420H

c.13259G>A

Surrounding Variants

1 paper

NM_201384.3

p.V4417M

c.13249G>A

5 papers

NM_201384.3

p.K4433*

c.13297A>T

NM_000445.5

p.K4460*

c.13378A>T

1 paper

NM_201384.3

p.P4407L

c.13220C>T

1 paper

NM_201384.3

p.R4405H

c.13214G>A

1 paper

NM_201384.3

p.P4400S

c.13198C>T

1 paper

NM_201384.3

p.E4399K

c.13195G>A

1 paper

NM_201384.3

p.L4397_I4398del1

c.13190_13192delTCA

1 paper

NM_201384.3

p.K4443E

c.13327A>G

1 paper

NM_000445.5

p.S4472_Y4473del1

c.13415_13417delAGG

1 paper

NM_201378.4

p.K4433*

c.13297A>T

1 paper

NM_201384.3

p.G4460R

c.13378G>A

1 paper

NM_201381.3

p.L4347insFs

c.13040dupT