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.K4124Q

c.12370A>C

Surrounding Variants

2 papers

NM_201384.3

p.L4119_P4120del2

c.12355_12359del6

1 paper

NM_201383.3

p.G4119_L4120del2

c.12355_12359del6

1 paper

NM_201378.4

p.K4119_S4120del2

c.12355_12359del6

1 paper

NM_201384.3

p.I4109del1

c.12325_12326delGAT

4 papers

NM_201384.3

p.R4140*

c.12418C>T

NM_000445.5

p.R4167*

c.12499C>T

1 paper

NM_201379.3

p.V4119_V4120del2

c.12355_12359del6

1 paper

NM_201384.3

p.Y4101del1

c.12301_12303delGTA

1 paper

NM_201384.3

p.T4100I

c.12299C>T

1 paper

NM_201381.3

p.E4119_M4120del2

c.12355_12359del6

3 papers

NM_000445.5

p.D4119_P4120del2

c.12355_12359del6

1 paper

NM_000445.5

p.L4189P

c.12566T>C

5 papers

NM_000445.5

p.Q4193_T4194insFs

c.12578_12581dup4

NM_201384.3

p.Q4166_T4167insFs

c.12497_12500dup4