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.I31799V

c.95395A>G

Surrounding Variants

1 paper

NM_001267550.2

p.S31804P

c.95410T>C

1 paper

NM_001267550.2

p.F31805L

c.95413T>C

1 paper

NM_001267550.2

p.F31805L

c.95415C>G

2 papers

NM_001267550.2

p.F31805L

c.95415C>A

8 papers

NM_001267550.2

p.G31791V

c.95372G>T

NM_001256850.1

p.G30150V

c.90449G>T

10 papers

NM_001267550.2

p.G31791D

c.95372G>A

NM_001256850.1

p.G30150D

c.90449G>A

8 papers

NM_001267550.2

p.G31791R

c.95371G>C

NM_133378.4

p.G29223R

c.87667G>C

NM_001256850.1

p.G30150R

c.90448G>C

8 papers

NM_001267550.2

p.N31786K

c.95358C>G

8 papers

NM_001267550.2

p.N31786K

c.95358C>A

2 papers

NM_001267550.2

p.V31785del1

c.95353_95354delTAC

2 papers

NM_001267550.2

p.V31782_V31785del0

c.95346_95354del9

5 papers

NM_001267550.2

p.A31784V

c.95351C>T