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.T2934P

c.8800A>C

Surrounding Variants

1 paper

NM_201384.3

p.T2934A

c.8800A>G

1 paper

NM_201384.3

p.R2939W

c.8815C>T

1 paper

NM_201384.3

p.L2941L

c.8821C>T

2 papers

NM_201380.4

p.R3083C

c.9247C>T

NM_000445.5

p.R2973C

c.8917C>T

1 paper

NM_201378.4

p.T2907M

c.8720C>T

1 paper

NM_201384.3

p.V2952M

c.8854G>A

1 paper

NM_201384.3

p.F2914L

c.8742C>A

1 paper

NM_201384.3

p.A2912G

c.8735C>G

1 paper

NM_201384.3

p.V2910M

c.8728G>A

1 paper

NM_201384.3

p.V2963M

c.8887G>A

1 paper

NM_201384.3

p.E2964*

c.8890G>T

1 paper

NM_201384.3

p.E2965K

c.8893G>A