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.R2087W

c.6259C>T

Surrounding Variants

1 paper

NM_201384.3

p.E2084_A2085ins2

c.6252_6253ins6

1 paper

NM_201384.3

p.A2089V

c.6266C>T

1 paper

NM_201384.3

p.A2083V

c.6248C>T

1 paper

NM_201379.3

p.L2057L

c.6169C>T

1 paper

NM_201384.3

p.R2097W

c.6289C>T

1 paper

NM_201384.3

p.R2097Q

c.6290G>A

1 paper

NM_201384.3

p.A2100T

c.6298G>A

1 paper

NM_201384.3

p.E2103*

c.6307G>T

5 papers

NM_201384.3

p.Q2071*

c.6211C>T

NM_201378.4

p.Q2057*

c.6169C>T

NM_000445.5

p.Q2098*

c.6292C>T

1 paper

NM_201384.3

p.L2069L

c.6207G>T

1 paper

NM_201384.3

p.S2107_R2108insAGG

c.6319_6323ins9

1 paper

NM_201384.3

p.Q2066*

c.6196C>T