Varaico: Literature-Extracted Genetic Variants

NEB

516 papers

RefSeq Summary

This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin a...

Pfam Domains

Nebulinaa 118–145UCSCNebulin repeat

Nebulinaa 154–180UCSCNebulin repeat

Nebulinaa 188–215UCSCNebulin repeat

Nebulinaa 258–285UCSCNebulin repeat

Nebulinaa 329–356UCSCNebulin repeat

Nebulinaa 368–395UCSCNebulin repeat

Gene Aliases

HGNC Name

nebulin

HGNC Previous Symbol

NEM2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001164508.2

p.T7195T

c.21585A>G

Surrounding Variants

1 paper

NM_001164508.2

p.T7190I

c.21569C>T

1 paper

NM_001164508.2

p.R7202P

c.21605G>C

1 paper

NM_001164508.2

p.N7182N

c.21546C>T

10 papers

NM_001164508.2

p.D7174_I7175Splc

c.21522+3A>G

2 papers

NM_001164508.2

p.D7174_I7175Splc

c.21522+3A>C

1 paper

NM_001271208.2

p.S7208R

c.21624C>G

1 paper

NM_001271208.2

p.S7208R

c.21624C>A

2 papers

NM_001271208.2

p.S7208R

c.21622A>C

1 paper

NM_001164508.2

p.I7156V

c.21466A>G

4 papers

NM_001164508.2

p.K7141delFs

c.21423delT

2 papers

NM_001164508.2

p.K7141fs

c.21421_21422fs

2 papers

NM_001164508.2

p.K7141fs

c.21421_21422fs