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.W22497*

c.67491G>A

Surrounding Variants

1 paper

NM_001267550.2

p.W22497*

c.67490G>A

2 papers

NM_001267550.2

p.Q22498*

c.67492C>T

17 papers

NM_001267550.2

p.R22499*

c.67495C>T

NM_001256850.1

p.R20858*

c.62572C>T

1 paper

NM_001267550.2

p.K22496R

c.67487A>G

1 paper

NM_001267550.2

p.N22495K

c.67485T>G

1 paper

NM_001267550.2

p.N22495K

c.67485T>A

1 paper

NM_001267550.2

p.E22494_N22495delFs

c.67480_67484del5

1 paper

NM_001267550.2

p.E22494*

c.67480G>T

5 papers

NM_001267550.2

p.Q22507*

c.67519C>T

1 paper

NM_001267550.2

p.Y22486*

c.67458T>G

1 paper

NM_001267550.2

p.Y22486*

c.67458T>A

1 paper

NM_001267550.2

p.A22510S

c.67528G>T