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.V45_I46Fs

c.134_136delinsCCFs

Surrounding Variants

1 paper

NM_001267550.2

p.I46delFs

c.136_137delAT

1 paper

NM_001267550.2

p.S47A

c.139T>G

2 papers

NM_001267550.2

p.S47T

c.139T>A

2 papers

NM_001267550.2

p.V45L

c.133G>T

1 paper

NM_001267550.2

p.V45L

c.133G>C

1 paper

NM_001267550.2

p.V45M

c.133G>A

1 paper

NM_001267550.2

p.Q44Q

c.132G>A

1 paper

NM_001267550.2

p.Q44R

c.131A>G

1 paper

NM_001267550.2

p.D42_G43delFs

c.126_129del4

1 paper

NM_001267550.2

p.T48A

c.142A>G

1 paper

NM_001267550.2

p.T48P

c.142A>C

2 papers

NM_001267550.2

p.G43G

c.129C>A