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

2 papers

NM_201381.3

p.R1952delFs

c.5854_5855delCG

Surrounding Variants

1 paper

NM_201384.3

p.R1984H

c.5951G>A

1 paper

NM_201381.3

p.R1950_R1952insFs

c.5849_5856dup8

1 paper

NM_201381.3

p.E1953fs

c.5857_5858fs

1 paper

NM_201384.3

p.E1980K

c.5938G>A

1 paper

NM_201384.3

p.V1990V

c.5970G>A

1 paper

NM_201384.3

p.E1978A

c.5933A>C

5 papers

NM_201384.3

p.E1978*

c.5932G>T

NM_000445.5

p.E2005*

c.6013G>T

1 paper

NM_201384.3

p.E1978K

c.5932G>A

1 paper

NM_201384.3

p.A1977T

c.5929G>A

1 paper

NM_201384.3

p.A1976V

c.5927C>T

1 paper

NM_201384.3

p.A1976T

c.5926G>A

1 paper

NM_201384.3

p.L1994Q

c.5981T>A