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.S726Y

c.2177C>A

Surrounding Variants

1 paper

NM_001267550.2

p.Y727N

c.2179T>A

1 paper

NM_001267550.2

p.E724Q

c.2170G>C

1 paper

NM_001267550.2

p.L723fs

c.2167_2168fs

1 paper

NM_001267550.2

p.L723P

c.2168T>C

1 paper

NM_001267550.2

p.L723F

c.2167C>T

1 paper

NM_001267550.2

p.Q730*

c.2188C>T

1 paper

NM_001267550.2

p.T731I

c.2192C>T

1 paper

NM_001267550.2

p.P720P

c.2160T>A

1 paper

NM_001267550.2

p.T732N

c.2195C>A

1 paper

NM_001267550.2

p.L733_E734ins4

c.2197_2201ins12

1 paper

NM_001267550.2

p.E719V

c.2156A>T

1 paper

NM_001267550.2

p.E734Q

c.2200G>C