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_201383.3

p.K448K

c.1344G>A

Surrounding Variants

1 paper

NM_201384.3

p.A445_D446ins9

c.1333_1337ins27

1 paper

NM_201384.3

p.A445V

c.1334C>T

1 paper

NM_201384.3

p.K444E

c.1330A>G

1 paper

NM_201380.4

p.D583N

c.1747G>A

1 paper

NM_201378.4

p.A431_D432insFs

c.1293_1294insG

1 paper

NM_201384.3

p.R440R

c.1320G>T

8 papers

NM_201384.3

p.M448I

c.1344G>A

1 paper

NM_201384.3

p.R440P

c.1319G>C

1 paper

NM_201384.3

p.E439K

c.1315G>A

1 paper

NM_201384.3

p.R450R

c.1350G>A

1 paper

NM_201384.3

p.V438M

c.1312G>A

1 paper

NM_201384.3

p.Q433*

c.1297C>T