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.S284L

c.851C>T

Surrounding Variants

1 paper

NM_001267550.2

p.P283delFs

c.848delG

1 paper

NM_001267550.2

p.I286V

c.856A>G

1 paper

NM_001267550.2

p.S282Y

c.845C>A

1 paper

NM_001267550.2

p.S282A

c.844T>G

1 paper

NM_001267550.2

p.Q280_Q281insFs

c.840_841ins4

2 papers

NM_001267550.2

p.Q280*

c.838C>T

1 paper

NM_001267550.2

p.S289P

c.865T>C

26 papers

NM_001267550.2

p.R279W

c.835C>T

1 paper

NM_001267550.2

p.S289S

c.867C>T

1 paper

NM_001267550.2

p.P290S

c.868C>T

1 paper

NM_001267550.2

p.P290L

c.869C>T

1 paper

NM_001267550.2

p.A278G

c.833C>G