Varaico: Literature-Extracted Genetic Variants

TTN

2,538 papers

RefSeq Summary

This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part ...

Pfam Domains

I-setaa 6–97UCSCImmunoglobulin I-set domain

I-setaa 104–193UCSCImmunoglobulin I-set domain

Titin_Zaa 415–457UCSCTitin Z

Titin_Zaa 692–739UCSCTitin Z

I-setaa 943–1032UCSCImmunoglobulin I-set domain

I-setaa 1082–1172UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

titin

HGNC Previous Symbol

CMD1G

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001267550.2

p.R139W

c.415C>T

Surrounding Variants

1 paper

NM_001267550.2

p.R139Q

c.416G>A

3 papers

NM_001267550.2

p.Y138*

c.414C>G

3 papers

NM_001267550.2

p.Y138*

c.414C>A

1 paper

NM_001267550.2

p.Y138C

c.413A>G

1 paper

NM_001267550.2

p.Y138H

c.412T>C

1 paper

NM_001267550.2

p.K136_F137del2

c.406_410del6

1 paper

NM_001267550.2

p.D140N

c.418G>A

1 paper

NM_001267550.2

p.D140V

c.419A>T

1 paper

NM_001267550.2

p.D140E

c.420T>G

1 paper

NM_001267550.2

p.F137S

c.410T>C

2 papers

NM_001267550.2

p.G141V

c.422G>T

1 paper

NM_001267550.2

p.G141E

c.422G>A