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.E1862G

c.5585A>G

Surrounding Variants

5 papers

NM_201384.3

p.N1863insFs

c.5588_5589insG

1 paper

NM_201384.3

p.R1865C

c.5593C>T

1 paper

NM_201384.3

p.R1865H

c.5594G>A

1 paper

NM_201383.3

p.K1863insFs

c.5588_5589insG

1 paper

NM_201384.3

p.R1868W

c.5602C>T

1 paper

NM_201384.3

p.E1873K

c.5617G>A

1 paper

NM_201384.3

p.L1848F

c.5542C>T

1 paper

NM_201378.4

p.R1863insFs

c.5588_5589insG

1 paper

NM_000445.5

p.R1905Q

c.5714G>A

5 papers

NM_201384.3

p.Q1883*

c.5647C>T

NM_000445.5

p.Q1910*

c.5728C>T

1 paper

NM_201384.3

p.A1884V

c.5651C>T

1 paper

NM_201379.3

p.A1863insFs

c.5588_5589insG