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.A2270V

c.6809C>T

Surrounding Variants

1 paper

NM_201384.3

p.E2269_A2270insFs

c.6805_6808dup4

1 paper

NM_201384.3

p.R2264_L2266del3

c.6790_6797del9

1 paper

NM_201384.3

p.V2276M

c.6826G>A

1 paper

NM_201384.3

p.Q2263E

c.6787C>G

2 papers

NM_201384.3

p.A2280T

c.6838G>A

1 paper

NM_201384.3

p.L2283L

c.6847C>T

1 paper

NM_201379.3

p.R2235H

c.6704G>A

1 paper

NM_201384.3

p.A2287T

c.6859G>A

1 paper

NM_201384.3

p.A2287D

c.6860C>A

10 papers

NM_000445.5

p.R2319*

c.6955C>T

NM_201384.3

p.R2292*

c.6874C>T

1 paper

NM_201384.3

p.R2246H

c.6737G>A

1 paper

NM_201384.3

p.R2246C

c.6736C>T