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.D22316_T22317delFs

c.66946_66949del4

Surrounding Variants

1 paper

NM_001267550.2

p.F22315delFs

c.66943delA

1 paper

NM_001267550.2

p.R22320S

c.66958C>A

1 paper

NM_001267550.2

p.R22320H

c.66959G>A

2 papers

NM_001267550.2

p.D22314Y

c.66940G>T

1 paper

NM_133378.4

p.K19743delFs

c.59227_59228delTT

NM_001267550.2

p.K22311delFs

c.66931_66932delTT

1 paper

NM_001267550.2

p.K22326R

c.66977A>G

1 paper

NM_001267550.2

p.N22325_K22326delFs

c.66975_66978del4

1 paper

NM_001267550.2

p.P22298fs

c.66892_66893fs

1 paper

NM_001267550.2

p.E22337D

c.67011G>T

1 paper

NM_001267550.2

p.E22337D

c.67011G>C

1 paper

NM_001267550.2

p.P22291_S22296insFs

c.66872_66887dup16

1 paper

NM_001267550.2

p.S22296Y

c.66887C>A