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.R2246H

c.6737G>A

Surrounding Variants

1 paper

NM_201384.3

p.R2246C

c.6736C>T

1 paper

NM_000445.5

p.K2269_L2270insFs

c.6805_6808dup4

1 paper

NM_000445.5

p.L2270fs

c.6808_6809fs

1 paper

NM_201384.3

p.L2240L

c.6720G>T

4 papers

NM_000445.5

p.M2264_E2266del3

c.6790_6797del9

1 paper

NM_201384.3

p.E2239V

c.6716A>T

2 papers

NM_201384.3

p.E2239*

c.6715G>T

1 paper

NM_201379.3

p.R2235H

c.6704G>A

1 paper

NM_201384.3

p.V2235M

c.6703G>A

1 paper

NM_201384.3

p.Q2263E

c.6787C>G

2 papers

NM_201381.3

p.E2183_V2194delFs

c.6549_6582del34

1 paper

NM_201384.3

p.Q2225P

c.6674A>C