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

5 papers

NM_001267550.2

p.V22359I

c.67075G>A

Surrounding Variants

1 paper

NM_001267550.2

p.D22353H

c.67057G>C

5 papers

NM_001267550.2

p.S22367P

c.67099T>C

2 papers

NM_001267550.2

p.K22368N

c.67104A>T

2 papers

NM_001267550.2

p.K22368N

c.67104A>C

1 paper

NM_001256850.1

p.D20728fs

c.62182_62183fs

1 paper

NM_001256850.1

p.D20728_S20729delFs

c.62184_62185delAG

1 paper

NM_001267550.2

p.Y22372fs

c.67114_67115fs

1 paper

NM_001267550.2

p.Y22372delFs

c.67115_67116delAT

1 paper

NM_001267550.2

p.G22382D

c.67145G>A

3 papers

NM_001256850.1

p.G20742R

c.62224G>C

NM_001267550.2

p.G22383R

c.67147G>C

3 papers

NM_001256850.1

p.G20742R

c.62224G>A

NM_001267550.2

p.G22383R

c.67147G>A

1 paper

NM_001267550.2

p.D22381_G22383del3

c.67141_67148del9