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

8 papers

NM_001267550.2

p.W35930R

c.107788T>A

Surrounding Variants

8 papers

NM_001267550.2

p.W35930R

c.107788T>C

5 papers

NM_001267550.2

p.E35927_W35930delins

c.107780_107790delinsTGAAAGAAAAA

3 papers

NM_001267550.2

p.G35934*

c.107800G>T

NM_133378.4

p.G33366*

c.100096G>T

NM_003319.4

p.G26869*

c.80605G>T

1 paper

NM_001267550.2

p.H35938_S35939delFs

c.107814_107815delTG

1 paper

NM_001267550.2

p.Q35940*

c.107818C>T

1 paper

NM_133378.4

p.A33351T

c.100051G>A

1 paper

NM_133378.4

p.C33350Y

c.100049G>A

1 paper

NM_001267550.2

p.Q35942delFs

c.107825delT

4 papers

NM_001267550.2

p.T35915P

c.107743A>C

1 paper

NM_001267550.2

p.H35946Y

c.107836C>T

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

2 papers

NM_001267550.2

p.I35947T

c.107840T>C

NM_133378.4

p.I33379T

c.100136T>C