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_201380.4

p.R1811Q

c.5432G>A

Surrounding Variants

1 paper

NM_201383.3

p.R1678delFs

c.5032delG

1 paper

NM_201381.3

p.R1642W

c.4924C>T

1 paper

NM_201384.3

p.R1675fs

c.5023_5024fs

1 paper

NM_000445.5

p.R1702fs

c.5104_5105fs

2 papers

NM_201383.3

p.A1673_R1679delFs

c.5018_5036del19

4 papers

NM_201384.3

p.R1676C

c.5026C>T

NM_201381.3

p.R1644C

c.4930C>T

1 paper

NM_201384.3

p.R1671C

c.5011C>T

5 papers

NM_201384.3

p.R1675_G1677delFs

c.5024_5031del8

NM_000445.5

p.R1702_G1704delFs

c.5105_5112del8

1 paper

NM_201384.3

p.K1678delFs

c.5032delT

2 papers

NM_201384.3

p.A1673_A1679delFs

c.5018_5036del19

1 paper

NM_000445.5

p.E1695delFs

c.5083delC

2 papers

NM_201380.4

p.E1804*

c.5410G>T