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

2 papers

NM_001267550.2

p.A93V

c.278C>T

Surrounding Variants

1 paper

NM_001267550.2

p.A93D

c.278C>A

1 paper

NM_001267550.2

p.A93S

c.277G>T

1 paper

NM_001267550.2

p.T92fs

c.274_275fs

1 paper

NM_001267550.2

p.T92S

c.275C>G

1 paper

NM_001267550.2

p.T92insFs

c.274dupA

1 paper

NM_001267550.2

p.E94V

c.281A>T

1 paper

NM_001267550.2

p.A93_E94del2

c.277_281del6

3 papers

NM_001267550.2

p.S91G

c.271A>G

1 paper

NM_001267550.2

p.L96H

c.287T>A

1 paper

NM_001267550.2

p.T90I

c.269C>T

5 papers

NM_001267550.2

p.V97M

c.289G>A

1 paper

NM_001267550.2

p.V97E

c.290T>A