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.Q124R

c.371A>G

Surrounding Variants

1 paper

NM_001267550.2

p.V125M

c.373G>A

2 papers

NM_001267550.2

p.Q124delFs

c.371_372delTT

1 paper

NM_001267550.2

p.L123L

c.369C>G

1 paper

NM_001267550.2

p.L123L

c.369C>A

1 paper

NM_001267550.2

p.V125A

c.374T>C

1 paper

NM_001267550.2

p.L123P

c.368T>C

1 paper

NM_001267550.2

p.L123F

c.367C>T

1 paper

NM_001267550.2

p.R122T

c.365G>C

2 papers

NM_001267550.2

p.V127L

c.379G>T

1 paper

NM_001267550.2

p.V127L

c.379G>C

1 paper

NM_001267550.2

p.V127_T128ins1

c.381_382insATC

1 paper

NM_001267550.2

p.V121L

c.361G>C