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

2 papers

NM_201380.4

p.L1936L

c.5806C>T

Surrounding Variants

2 papers

NM_201383.3

p.A1804S

c.5410G>T

1 paper

NM_201384.3

p.E1798K

c.5392G>A

1 paper

NM_201380.4

p.R1934H

c.5801G>A

1 paper

NM_000445.5

p.R1824C

c.5470C>T

1 paper

NM_201381.3

p.E1770insFs

c.5309_5310insG

1 paper

NM_201380.4

p.E1939delFs

c.5815delC

1 paper

NM_201384.3

p.R1795Q

c.5384G>A

2 papers

NM_201384.3

p.A1804S

c.5410G>T

1 paper

NM_201384.3

p.G1794C

c.5380G>T

1 paper

NM_201384.3

p.A1803del1

c.5407_5409delGGC

1 paper

NM_201379.3

p.E1770insFs

c.5309_5310insG

1 paper

NM_201384.3

p.E1790del1

c.5368_5369delCTC