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.R35989*

c.107965C>T

Surrounding Variants

1 paper

NM_001267550.2

p.I35988delFs

c.107962_107963delAT

1 paper

NM_001267550.2

p.I35988fs

c.107962_107963fs

1 paper

NM_001267550.2

p.S35990delFs

c.107970delG

2 papers

NM_001267550.2

p.I35986T

c.107957T>C

1 paper

NM_133378.4

p.I33418K

c.100253T>A

1 paper

NM_133378.4

p.G33410E

c.100229G>A

2 papers

NM_001267550.2

p.E35976*

c.107926G>T

7 papers

NM_001267550.2

p.Q35964*

c.107890C>T

NM_133378.4

p.Q33396*

c.100186C>T

NM_001256850.1

p.Q34323*

c.102967C>T

1 paper

NM_001267550.2

p.Q35964E

c.107890C>G

21 papers

NM_001267550.2

p.K35963delFs

c.107889delT

NM_133378.4

p.K33395delFs

c.100185delT

NM_001256850.1

p.K34322delFs

c.102966delT

5 papers

NM_001267550.2

p.K35963fs

c.107887_107888fs

NM_133378.4

p.K33395fs

c.100183_100184fs

15 papers

NM_001267550.2

p.K35963fs

c.107887_107888fs

NM_133378.4

p.K33395fs

c.100183_100184fs