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.L3426L

c.10276C>T

Surrounding Variants

1 paper

NM_201384.3

p.A3429T

c.10285G>A

2 papers

NM_201381.3

p.S3396_A3397delFs

c.10187_10190del4

1 paper

NM_201384.3

p.V3418_P3420del3

c.10252_10259del9

2 papers

NM_201379.3

p.V3396_G3397delFs

c.10187_10190del4

2 papers

NM_201378.4

p.H3396_E3397delFs

c.10187_10190del4

2 papers

NM_201384.3

p.G3396_F3397delFs

c.10187_10190del4

1 paper

NM_201384.3

p.G3396C

c.10186G>T

2 papers

NM_201383.3

p.Q3396_A3397delFs

c.10187_10190del4

5 papers

NM_201384.3

p.Q3459*

c.10375C>T

NM_000445.5

p.Q3486*

c.10456C>T

1 paper

NM_201384.3

p.Q3392*

c.10174C>T

1 paper

NM_201384.3

p.L3389L

c.10165C>T

1 paper

NM_201384.3

p.A3386S

c.10156G>T