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

4 papers

NM_133378.4

p.L33388fs

c.100162_100163fs

NM_001267550.2

p.L35956fs

c.107866_107867fs

Surrounding Variants

9 papers

NM_001267550.2

p.L35956P

c.107867T>C

NM_133378.4

p.L33388P

c.100163T>C

NM_001256850.1

p.L34315P

c.102944T>C

5 papers

NM_133378.4

p.L33388delFs

c.100163delA

NM_001267550.2

p.L35956delFs

c.107867delA

1 paper

NM_001267550.2

p.T35950delFs

c.107850delT

15 papers

NM_001267550.2

p.K35963fs

c.107887_107888fs

NM_133378.4

p.K33395fs

c.100183_100184fs

5 papers

NM_001267550.2

p.K35963fs

c.107887_107888fs

NM_133378.4

p.K33395fs

c.100183_100184fs

7 papers

NM_001267550.2

p.Q35964*

c.107890C>T

NM_133378.4

p.Q33396*

c.100186C>T

NM_001256850.1

p.Q34323*

c.102967C>T

1 paper

NM_001267550.2

p.Q35964E

c.107890C>G

21 papers

NM_001267550.2

p.K35963delFs

c.107889delT

NM_133378.4

p.K33395delFs

c.100185delT

NM_001256850.1

p.K34322delFs

c.102966delT

2 papers

NM_001267550.2

p.I35947T

c.107840T>C

NM_133378.4

p.I33379T

c.100136T>C

19 papers

NM_001267550.2

p.I35947N

c.107840T>A

NM_133378.4

p.I33379N

c.100136T>A

NM_001256850.1

p.I34306N

c.102917T>A

8 papers

NM_001267550.2

p.H35946P

c.107837A>C

NM_133378.4

p.H33378P

c.100133A>C

NM_001256850.1

p.H34305P

c.102914A>C

1 paper

NM_001267550.2

p.H35946Y

c.107836C>T