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.Y22424N

c.67270T>A

Surrounding Variants

1 paper

NM_001267550.2

p.G22421E

c.67262G>A

5 papers

NM_001267550.2

p.R22427*

c.67279C>T

NM_133432.3

p.R13487*

c.40459C>T

NM_003319.4

p.R13362*

c.40084C>T

1 paper

NM_001267550.2

p.A22430D

c.67289C>A

6 papers

NM_001267550.2

p.A22416P

c.67246G>C

NM_003319.4

p.A13351P

c.40051G>C

1 paper

NM_001267550.2

p.G22437D

c.67310G>A

1 paper

NM_001267550.2

p.D22438E

c.67314T>A

1 paper

NM_001267550.2

p.R22398_E22407delFs

c.67194_67221del28

1 paper

NM_001267550.2

p.G22440S

c.67318G>A

1 paper

NM_001267550.2

p.E22441G

c.67322A>G

1 paper

NM_001267550.2

p.V22404M

c.67210G>A

1 paper

NM_001267550.2

p.R22443_A22448delFs

c.67328_67343del16

1 paper

NM_001267550.2

p.R22443_A22448del6

c.67327_67343del18