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_201380.4

p.L429del1

c.1285_1286delAAG

Surrounding Variants

8 papers

NM_201384.3

p.L291_L292ins0

c.873_875dupGCT

NM_000445.5

p.L318_L319ins0

c.954_956dupGCT

2 papers

NM_201380.4

p.L426del1

c.1276_1277delCAG

NM_000445.5

p.L318_L319del1

c.953_955delGCA

5 papers

NM_201384.3

p.L292P

c.875T>C

NM_000445.5

p.L319P

c.956T>C

1 paper

NM_201384.3

p.M295insFs

c.883dupA

8 papers

NM_201384.3

p.R296Q

c.887G>A

NM_201380.4

p.R433Q

c.1298G>A

NM_000445.5

p.R323Q

c.968G>A

1 paper

NM_201384.3

p.L287L

c.861G>T

1 paper

NM_201378.4

p.A286V

c.857C>T

1 paper

NM_201384.3

p.E303K

c.907G>A

4 papers

NM_201384.3

p.R305C

c.913C>T

1 paper

NM_201378.4

p.R291_R292ins0

c.873_875dupCAG

1 paper

NM_201384.3

p.R306R

c.918G>A

1 paper

NM_201384.3

p.F307C

c.920T>G