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.S146C

c.436A>T

Surrounding Variants

2 papers

NM_001267550.2

p.S146N

c.437G>A

2 papers

NM_001267550.2

p.Q145L

c.434A>T

1 paper

NM_001267550.2

p.S147C

c.440C>G

1 paper

NM_001267550.2

p.S147S

c.441C>A

1 paper

NM_001267550.2

p.L148V

c.442C>G

1 paper

NM_001267550.2

p.L148insFs

c.442dupC

1 paper

NM_001267550.2

p.E143G

c.428A>G

3 papers

NM_001267550.2

p.E143K

c.427G>A

1 paper

NM_001267550.2

p.D149N

c.445G>A

1 paper

NM_001267550.2

p.A142A

c.426C>T

1 paper

NM_001267550.2

p.D149A

c.446A>C

1 paper

NM_001267550.2

p.A142V

c.425C>T