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.G31Splc

c.92-1G>A

Surrounding Variants

1 paper

NM_001267550.2

p.G31R

c.91G>C

3 papers

NM_001267550.2

p.G31D

c.92G>A

1 paper

NM_001267550.2

p.G31G

c.93T>A

1 paper

NM_001267550.2

p.G31_F32delFs

c.93_94delAA

1 paper

NM_001267550.2

p.P33P

c.99A>T

1 paper

NM_001267550.2

p.V34L

c.100G>C

1 paper

NM_001267550.2

p.V34G

c.101T>G

2 papers

NM_001267550.2

p.V34A

c.101T>C

1 paper

NM_001267550.2

p.V34D

c.101T>A

1 paper

NM_001267550.2

p.V34V

c.102T>C

1 paper

NM_001267550.2

p.P35T

c.103C>A

1 paper

NM_001267550.2

p.E36D

c.108G>T