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_201384.3

p.D4347insFs

c.13040dupA

Surrounding Variants

1 paper

NM_201384.3

p.D4347N

c.13039G>A

1 paper

NM_201383.3

p.K4347insFs

c.13040dupA

1 paper

NM_201384.3

p.V4341M

c.13021G>A

1 paper

NM_201380.4

p.I4486_K4491insFs

c.13458_13473dup16

1 paper

NM_201380.4

p.N4487_A4492insFs

c.13459_13474dup16

1 paper

NM_000445.5

p.F4386S

c.13157T>C

1 paper

NM_201384.3

p.D4361E

c.13083C>G

1 paper

NM_201378.4

p.D4347insFs

c.13040dupA

1 paper

NM_201384.3

p.D4361E

c.13083C>A

1 paper

NM_201379.3

p.S4347insFs

c.13040dupC

1 paper

NM_201384.3

p.D4323N

c.12967G>A

2 papers

NM_201384.3

p.I4321fs

c.12961_12962fs

NM_000445.5

p.I4348fs

c.13042_13043fs