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.E1661D

c.4983G>C

Surrounding Variants

1 paper

NM_201384.3

p.E1661D

c.4983G>T

1 paper

NM_201384.3

p.E1663K

c.4987G>A

1 paper

NM_201384.3

p.A1658T

c.4972G>A

1 paper

NM_201378.4

p.Q1651delFs

c.4951delG

1 paper

NM_201378.4

p.A1646_K1652delFs

c.4937_4955del19

2 papers

NM_201380.4

p.E1804*

c.5410G>T

1 paper

NM_201384.3

p.E1667K

c.4999G>A

1 paper

NM_000445.5

p.E1695delFs

c.5083delC

6 papers

NM_000445.5

p.L1673_A1679delFs

c.5018_5036del19

NM_201384.3

p.L1646_A1652delFs

c.4937_4955del19

1 paper

NM_201384.3

p.R1671C

c.5011C>T

1 paper

NM_000445.5

p.V1678fs

c.5032_5033fs

5 papers

NM_201384.3

p.V1651delFs

c.4951delC

NM_000445.5

p.V1678delFs

c.5032delC