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.E3839K

c.11515G>A

Surrounding Variants

1 paper

NM_000445.5

p.E3869K

c.11605G>A

2 papers

NM_201378.4

p.D3818_D3821delFs

c.11453_11462del10

2 papers

NM_201384.3

p.D3835N

c.11503G>A

2 papers

NM_201379.3

p.P3818_V3821delFs

c.11453_11462del10

1 paper

NM_201384.3

p.Y3828fs

c.11482_11483fs

1 paper

NM_201384.3

p.R3826C

c.11476C>T

1 paper

NM_201384.3

p.E3853Q

c.11557G>C

2 papers

NM_201381.3

p.S3818_E3821delFs

c.11453_11462del10

1 paper

NM_201378.4

p.V3808M

c.11422G>A

2 papers

NM_201384.3

p.L3818_E3821delFs

c.11453_11462del10

2 papers

NM_201383.3

p.L3818_H3821delFs

c.11453_11462del10

1 paper

NM_201384.3

p.L3861fs

c.11581_11582fs