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.G22453R

c.67357G>A

Surrounding Variants

1 paper

NM_001267550.2

p.G22453R

c.67357G>C

4 papers

NM_133378.4

p.Q19882*

c.59644C>T

NM_001267550.2

p.Q22450*

c.67348C>T

2 papers

NM_001267550.2

p.Q22450Splc

c.67349-2A>G

4 papers

NM_001267550.2

p.Q22450Splc

c.67349-2A>C

1 paper

NM_133432.3

p.V13520L

c.40558G>T

1 paper

NM_133432.3

p.V13520L

c.40558G>C

1 paper

NM_001267550.2

p.G22471D

c.67412G>A

2 papers

NM_001267550.2

p.K22474fs

c.67420_67421fs

2 papers

NM_001267550.2

p.K22474delFs

c.67421delT

1 paper

NM_133378.4

p.S19913R

c.59737A>C

1 paper

NM_001267550.2

p.R22482Q

c.67445G>A

1 paper

NM_001267550.2

p.Q22450Splc

c.67348+5G>A