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_201379.3

p.M448I

c.1344G>A

Surrounding Variants

1 paper

NM_201384.3

p.Y471_R472insA

c.1411_1415ins3

1 paper

NM_201380.4

p.R609C

c.1825C>T

2 papers

NM_201384.3

p.R472G

c.1414C>G

NM_000445.5

p.R499G

c.1495C>G

3 papers

NM_201384.3

p.R473_V474ins12

c.1417_1421ins36

NM_000445.5

p.R500_V501ins12

c.1498_1502ins36

1 paper

NM_201384.3

p.E468K

c.1402G>A

1 paper

NM_201380.4

p.G604G

c.1812C>T

1 paper

NM_201384.3

p.P465P

c.1395G>A

1 paper

NM_201384.3

p.H464Y

c.1390C>T

1 paper

NM_201384.3

p.R463W

c.1387C>T

1 paper

NM_201384.3

p.G462E

c.1385G>A

1 paper

NM_201384.3

p.R450R

c.1350G>A

8 papers

NM_201384.3

p.M448I

c.1344G>A