Varaico: Literature-Extracted Genetic Variants

NEBL

210 papers

RefSeq Summary

This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated mu...

Pfam Domains

Nebulinaa 35–62UCSCNebulin repeat

Nebulinaa 213–240UCSCNebulin repeat

Nebulinaa 320–347UCSCNebulin repeat

Nebulinaa 356–384UCSCNebulin repeat

Nebulinaa 431–456UCSCNebulin repeat

Gene Aliases

HGNC Name

nebulette

HGNC Previous Symbol

C10orf113

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_006393.3

p.M351V

c.1051A>G

Surrounding Variants

1 paper

NM_006393.3

p.F354L

c.1060T>C

1 paper

NM_006393.3

p.G348R

c.1042G>C

1 paper

NM_006393.3

p.G348R

c.1042G>A

1 paper

NM_006393.3

p.F354L

c.1062T>G

1 paper

NM_006393.3

p.F354L

c.1062T>A

1 paper

NM_006393.3

p.N346delFs

c.1037delT

1 paper

NM_006393.3

p.N346fs

c.1036_1037fs

1 paper

NM_006393.3

p.E344Q

c.1030G>C

1 paper

NM_006393.3

p.Y343delFs

c.1029delA

1 paper

NM_006393.3

p.P358L

c.1073C>T

1 paper

NM_006393.3

p.S359L

c.1076C>T

1 paper

NM_006393.3

p.A362P

c.1084G>C