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.P131A

c.391C>G

Surrounding Variants

1 paper

NM_001267550.2

p.P131L

c.392C>T

1 paper

NM_001267550.2

p.I130M

c.390C>G

1 paper

NM_001267550.2

p.R126_G129del4

c.376_386del12

1 paper

NM_001267550.2

p.I130V

c.388A>G

1 paper

NM_001267550.2

p.T132T

c.396A>T

1 paper

NM_001267550.2

p.G129*

c.385G>T

1 paper

NM_001267550.2

p.P133S

c.397C>T

1 paper

NM_001267550.2

p.P133A

c.397C>G

1 paper

NM_001267550.2

p.T128T

c.384T>A

1 paper

NM_001267550.2

p.V134A

c.401T>C

1 paper

NM_001267550.2

p.V127_T128ins1

c.381_382insATC

1 paper

NM_001267550.2

p.V134V

c.402G>T