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

22 papers

NM_001267550.2

p.A743V

c.2228C>T

Surrounding Variants

2 papers

NM_001267550.2

p.A743T

c.2227G>A

3 papers

NM_001267550.2

p.A744T

c.2230G>A

1 paper

NM_001267550.2

p.S742Y

c.2225C>A

28 papers

NM_001267550.2

p.R740L

c.2219G>T

2 papers

NM_001267550.2

p.R740S

c.2218C>A

1 paper

NM_001267550.2

p.E739K

c.2215G>A

4 papers

NM_001267550.2

p.E748E

c.2244G>A

1 paper

NM_001267550.2

p.K738*

c.2212A>T

1 paper

NM_001267550.2

p.G736fs

c.2206_2207fs

2 papers

NM_001267550.2

p.P750L

c.2249C>T

1 paper

NM_001267550.2

p.G736R

c.2206G>C

1 paper

NM_001267550.2

p.Y735Y

c.2205C>T