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.P3736P

c.11208G>A

Surrounding Variants

1 paper

NM_201384.3

p.E3740E

c.11220G>A

1 paper

NM_201384.3

p.T3730P

c.11188A>C

1 paper

NM_201384.3

p.H3758Y

c.11272C>T

1 paper

NM_201384.3

p.A3709S

c.11125G>T

1 paper

NM_201384.3

p.E3765del1

c.11293_11295delCTC

1 paper

NM_201380.4

p.E3902_R3903del2

c.11704_11708del6

1 paper

NM_201384.3

p.R3772R

c.11316T>G

1 paper

NM_201384.3

p.G3699R

c.11095G>C

1 paper

NM_201384.3

p.G3699S

c.11095G>A

1 paper

NM_201384.3

p.P3698S

c.11092C>T

1 paper

NM_201384.3

p.T3689M

c.11066C>T

1 paper

NM_201384.3

p.A3785T

c.11353G>A