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.Y22282*

c.66846T>G

Surrounding Variants

1 paper

NM_001267550.2

p.Y22282*

c.66846T>A

1 paper

NM_001267550.2

p.V22283I

c.66847G>A

1 paper

NM_001267550.2

p.R22280K

c.66839G>A

1 paper

NM_001267550.2

p.I22272_L22273delFs

c.66816_66817delAT

2 papers

NM_001267550.2

p.L22273fs

c.66817_66818fs

3 papers

NM_001256850.1

p.W20654*

c.61961G>A

NM_001267550.2

p.W22295*

c.66884G>A

1 paper

NM_133378.4

p.R19700_K19701delFs

c.59100_59103del4

NM_001267550.2

p.R22268_K22269delFs

c.66804_66807del4

3 papers

NM_001256850.1

p.W20654*

c.61962G>A

NM_001267550.2

p.W22295*

c.66885G>A

1 paper

NM_001267550.2

p.W22295delFs

c.66885delC

1 paper

NM_001267550.2

p.S22296Y

c.66887C>A

1 paper

NM_001267550.2

p.P22291_S22296insFs

c.66872_66887dup16

1 paper

NM_001267550.2

p.P22298fs

c.66892_66893fs