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.S175L

c.524C>T

Surrounding Variants

1 paper

NM_001267550.2

p.V176insFs

c.527_528insC

3 papers

NM_001267550.2

p.Y174C

c.521A>G

1 paper

NM_001267550.2

p.T173T

c.519C>T

1 paper

NM_001267550.2

p.E165_Y174delins

c.493_520delinsGCGT

1 paper

NM_001267550.2

p.T173N

c.518C>A

1 paper

NM_001267550.2

p.T173A

c.517A>G

1 paper

NM_001267550.2

p.D170_G172del3

c.508_515del9

1 paper

NM_001267550.2

p.A178T

c.532G>A

1 paper

NM_001267550.2

p.G172G

c.516G>A

20 papers

NM_001267550.2

p.A178D

c.533C>A

1 paper

NM_001267550.2

p.G172R

c.514G>A

1 paper

NM_001267550.2

p.T179A

c.535A>G