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

5 papers

NM_000445.5

p.Q4193_T4194insFs

c.12578_12581dup4

NM_201384.3

p.Q4166_T4167insFs

c.12497_12500dup4

Surrounding Variants

2 papers

NM_201384.3

p.Y4168fs

c.12502_12503fs

NM_000445.5

p.Y4195fs

c.12583_12584fs

1 paper

NM_201384.3

p.Y4168Y

c.12504C>T

2 papers

NM_000445.5

p.Y4195fs

c.12583_12584fs

1 paper

NM_000445.5

p.L4189P

c.12566T>C

1 paper

NM_201378.4

p.E4166_I4167insFs

c.12497_12500dup4

1 paper

NM_201381.3

p.E4119_M4120del2

c.12355_12359del6

1 paper

NM_201384.3

p.S4185F

c.12554C>T

1 paper

NM_201384.3

p.D4187D

c.12561C>T

1 paper

NM_201384.3

p.V4189A

c.12566T>C

2 papers

NM_201383.3

p.V4193_V4194insFs

c.12578_12581dup4

1 paper

NM_201384.3

p.K4191E

c.12571A>G

1 paper

NM_201379.3

p.V4119_V4120del2

c.12355_12359del6