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.L31772V

c.95314C>G

Surrounding Variants

1 paper

NM_001267550.2

p.K31774E

c.95320A>G

1 paper

NM_001267550.2

p.N31776delFs

c.95327delT

9 papers

NM_001256850.1

p.S30125F

c.90374C>T

NM_001267550.2

p.S31766F

c.95297C>T

5 papers

NM_001267550.2

p.R31781*

c.95341C>T

1 paper

NM_001267550.2

p.E31761K

c.95281G>A

1 paper

NM_001267550.2

p.A31784T

c.95350G>A

5 papers

NM_001267550.2

p.A31784V

c.95351C>T

2 papers

NM_001267550.2

p.V31782_V31785del0

c.95346_95354del9

2 papers

NM_001267550.2

p.V31785del1

c.95353_95354delTAC

1 paper

NM_001267550.2

p.I31757T

c.95270T>C

8 papers

NM_001267550.2

p.N31786K

c.95358C>G

8 papers

NM_001267550.2

p.N31786K

c.95358C>A