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

1–12 of 12736 variants

33 papers

NM_001267550.2

p.V54M

c.160G>A

31 papers

NM_001267550.2

p.C31712R

c.95134T>C

28 papers

NM_001267550.2

p.R740L

c.2219G>T

26 papers

NM_001267550.2

p.R279W

c.835C>T

24 papers

NM_001267550.2

p.W976R

c.2926T>C

24 papers

NM_001267550.2

p.W976R

c.2926T>A

22 papers

NM_001267550.2

p.A743V

c.2228C>T

20 papers

NM_001267550.2

p.A178D

c.533C>A

18 papers

NM_001267550.2

p.K35963delFs

c.107889delT

17 papers

NM_001267550.2

p.P31732L

c.95195C>T

16 papers

NM_001267550.2

p.R22499*

c.67495C>T

16 papers

NM_001267550.2

p.I35947N

c.107840T>A