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.M1K

c.2T>A

Surrounding Variants

1 paper

NM_201384.3

p.M1R

c.2T>G

1 paper

NM_201384.3

p.M1I

c.3G>T

5 papers

NM_201384.3

p.M1insFs

c.2dupT

2 papers

NM_201384.3

p.M1I

c.3G>C

3 papers

NM_201384.3

p.M1I

c.3G>A

4 papers

NM_201384.3

p.M1L

c.1A>T

1 paper

NM_201384.3

p.M1V

c.1A>G

2 papers

NM_201384.3

p.M1L

c.1A>C

1 paper

NM_201384.3

p.Q3*

c.7C>T

1 paper

NM_201384.3

p.Q3K

c.7C>A

10 papers

NM_201384.3

p.M1_Q3del0

c.1_9del9

1 paper

NM_201384.3

p.H4H

c.12C>T