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

2 papers

NM_201383.3

p.L1910L

c.5728C>T

Surrounding Variants

1 paper

NM_201384.3

p.E1905K

c.5713G>A

6 papers

NM_000445.5

p.Q1936*

c.5806C>T

NM_201384.3

p.Q1909*

c.5725C>T

1 paper

NM_201384.3

p.L1912fs

c.5734_5735fs

5 papers

NM_201384.3

p.L1912delFs

c.5734delG

NM_000445.5

p.L1939delFs

c.5815delG

1 paper

NM_000445.5

p.L1939fs

c.5815_5816fs

2 papers

NM_201384.3

p.E1914*

c.5740G>T

1 paper

NM_201384.3

p.E1914G

c.5741A>G

5 papers

NM_201384.3

p.Q1897*

c.5689C>T

NM_201378.4

p.Q1883*

c.5647C>T

NM_000445.5

p.Q1924*

c.5770C>T

1 paper

NM_201381.3

p.L1863insFs

c.5588_5589insG

1 paper

NM_201384.3

p.E1893D

c.5679G>T

1 paper

NM_201384.3

p.E1893D

c.5679G>C

2 papers

NM_201380.4

p.R2057W

c.6169C>T

NM_201383.3

p.R1924W

c.5770C>T