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.L3344P

c.10031T>C

Surrounding Variants

1 paper

NM_201384.3

p.G3345R

c.10033G>C

1 paper

NM_201384.3

p.G3345S

c.10033G>A

1 paper

NM_201378.4

p.S3328T

c.9982T>A

1 paper

NM_201378.4

p.V3333M

c.9997G>A

1 paper

NM_201384.3

p.G3353R

c.10057G>C

1 paper

NM_201384.3

p.G3353S

c.10057G>A

1 paper

NM_201384.3

p.D3333N

c.9997G>A

1 paper

NM_201384.3

p.G3321_L3331del11

c.9961_9992del33

2 papers

NM_201384.3

p.F3328I

c.9982T>A

NM_000445.5

p.F3355I

c.10063T>A

1 paper

NM_201384.3

p.L3362L

c.10084C>T

1 paper

NM_201384.3

p.V3369fs

c.10105_10106fs

5 papers

NM_201384.3

p.V3369_S3370delFs

c.10106_10109del4

NM_000445.5

p.V3396_S3397delFs

c.10187_10190del4