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.S57C

c.170C>G

Surrounding Variants

2 papers

NM_001267550.2

p.S57F

c.170C>T

1 paper

NM_001267550.2

p.S57S

c.171C>A

1 paper

NM_001267550.2

p.I56_S57delins

c.168_171delinsA

1 paper

NM_001267550.2

p.I56N

c.167T>A

1 paper

NM_001267550.2

p.S57del1

c.169_170delGGA

1 paper

NM_001267550.2

p.I56L

c.166A>C

1 paper

NM_001267550.2

p.Q55Q

c.165G>A

1 paper

NM_001267550.2

p.S59R

c.175A>C

1 paper

NM_001267550.2

p.S59R

c.177C>G

1 paper

NM_001267550.2

p.S59R

c.177C>A

5 papers

NM_001267550.2

p.D60Y

c.178G>T

1 paper

NM_001267550.2

p.V54insFs

c.161_162insTC