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.V954V

c.2862C>T

Surrounding Variants

1 paper

NM_001267550.2

p.E956K

c.2866G>A

1 paper

NM_001267550.2

p.I955delFs

c.2864_2865delTA

1 paper

NM_001267550.2

p.G957R

c.2869G>C

1 paper

NM_001267550.2

p.N951insFs

c.2852dupA

1 paper

NM_001267550.2

p.E958K

c.2872G>A

1 paper

NM_001267550.2

p.N951fs

c.2851_2852fs

1 paper

NM_001267550.2

p.S959F

c.2876C>T

1 paper

NM_001267550.2

p.K950E

c.2848A>G

1 paper

NM_001267550.2

p.I966M

c.2898C>G

1 paper

NM_001267550.2

p.S971F

c.2912C>T

1 paper

NM_001267550.2

p.S947_G948Splc

c.2842-32G>A

1 paper

NM_001267550.2

p.V974delFs

c.2921delA