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.K762R

c.2285A>G

Surrounding Variants

1 paper

NM_001267550.2

p.V760I

c.2278G>A

1 paper

NM_001267550.2

p.K765N

c.2295G>T

1 paper

NM_001267550.2

p.K765N

c.2295G>C

1 paper

NM_001267550.2

p.P766R

c.2297C>G

1 paper

NM_001267550.2

p.P757S

c.2269C>T

1 paper

NM_001267550.2

p.V768I

c.2302G>A

2 papers

NM_001267550.2

p.Q770H

c.2310G>T

1 paper

NM_001267550.2

p.A754S

c.2260G>T

2 papers

NM_001267550.2

p.Q770H

c.2310G>C

1 paper

NM_001267550.2

p.P753L

c.2258C>T

1 paper

NM_001267550.2

p.R752L

c.2255G>T

1 paper

NM_001267550.2

p.R752C

c.2254C>T