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.D42_G43delFs

c.126_129del4

Surrounding Variants

2 papers

NM_001267550.2

p.G43G

c.129C>A

1 paper

NM_001267550.2

p.Q44R

c.131A>G

1 paper

NM_001267550.2

p.Q44Q

c.132G>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.G43S

c.127G>A

3 papers

NM_001267550.2

p.F40_D42del3

c.118_125del9

1 paper

NM_001267550.2

p.D42D

c.126T>C

1 paper

NM_001267550.2

p.W39_R41del3

c.115_122del9

1 paper

NM_001267550.2

p.V45_I46Fs

c.134_136delinsCCFs

1 paper

NM_001267550.2

p.R41R

c.123G>A