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.D230_A231insFs

c.690_691insC

Surrounding Variants

1 paper

NM_001267550.2

p.A231T

c.691G>A

1 paper

NM_001267550.2

p.A231fs

c.691_692fs

2 papers

NM_001267550.2

p.D230G

c.689A>G

2 papers

NM_001267550.2

p.D230N

c.688G>A

1 paper

NM_001267550.2

p.F229del1

c.685_686delAAA

1 paper

NM_001267550.2

p.R232*

c.694A>T

1 paper

NM_001267550.2

p.R232K

c.695G>A

1 paper

NM_001267550.2

p.H228H

c.684C>T

1 paper

NM_001267550.2

p.S233*

c.698C>G

1 paper

NM_001267550.2

p.S233*

c.698C>A

1 paper

NM_001267550.2

p.A227T

c.679G>A

1 paper

NM_001267550.2

p.E226Q

c.676G>C