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

4 papers

NM_001267550.2

p.T35915P

c.107743A>C

Surrounding Variants

1 paper

NM_133378.4

p.C33350Y

c.100049G>A

1 paper

NM_133378.4

p.A33351T

c.100051G>A

3 papers

NM_001267550.2

p.I35908T

c.107723T>C

NM_133378.4

p.I33340T

c.100019T>C

2 papers

NM_133378.4

p.S33339R

c.100017C>G

NM_001267550.2

p.S35907R

c.107721C>G

2 papers

NM_133378.4

p.S33339R

c.100017C>A

NM_001267550.2

p.S35907R

c.107721C>A

2 papers

NM_133378.4

p.S33339R

c.100015A>C

NM_001267550.2

p.S35907R

c.107719A>C

1 paper

NM_001267550.2

p.P35903S

c.107707C>T

1 paper

NM_001267550.2

p.E35900delFs

c.107700delT

8 papers

NM_001267550.2

p.W35930R

c.107788T>C

8 papers

NM_001267550.2

p.W35930R

c.107788T>A

3 papers

NM_001267550.2

p.I35899T

c.107696T>C

5 papers

NM_001267550.2

p.E35927_W35930delins

c.107780_107790delinsTGAAAGAAAAA