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.T780I

c.2339C>T

Surrounding Variants

1 paper

NM_001267550.2

p.I777_T780ins1

c.2331_2339dup9

1 paper

NM_001267550.2

p.T780A

c.2338A>G

1 paper

NM_001267550.2

p.T779T

c.2337T>A

1 paper

NM_001267550.2

p.D781Fs

c.2341_2343delinsATFs

1 paper

NM_001267550.2

p.K783*

c.2347A>T

1 paper

NM_001267550.2

p.H776Y

c.2326C>T

1 paper

NM_001267550.2

p.G784delFs

c.2351delC

1 paper

NM_001267550.2

p.G784insFs

c.2352dupA

1 paper

NM_001267550.2

p.H786Q

c.2358C>G

1 paper

NM_001267550.2

p.H786Q

c.2358C>A

1 paper

NM_001267550.2

p.S788L

c.2363C>T

1 paper

NM_003319.4

p.S743L

c.2228C>T