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

35 papers

NM_001256850.1

p.C30071R

c.90211T>C

NM_001267550.2

p.C31712R

c.95134T>C

NM_133378.4

p.C29144R

c.87430T>C

Surrounding Variants

1 paper

NM_001256850.1

p.C30071G

c.90211T>G

7 papers

NM_001267550.2

p.C31712Y

c.95135G>A

NM_001256850.1

p.C30071Y

c.90212G>A

4 papers

NM_001267550.2

p.C31712W

c.95136T>G

NM_001256850.1

p.C30071W

c.90213T>G

1 paper

NM_001267550.2

p.G31710V

c.95129G>T

9 papers

NM_001267550.2

p.P31709R

c.95126C>G

NM_001256850.1

p.P30068R

c.90203C>G

4 papers

NM_001267550.2

p.P31709H

c.95126C>A

1 paper

NM_001267550.2

p.S31708delFs

c.95122delA

1 paper

NM_001267550.2

p.T31716N

c.95147C>A

3 papers

NM_001256850.1

p.T30075T

c.90225C>T

NM_001267550.2

p.T31716T

c.95148C>T

1 paper

NM_001267550.2

p.V31717I

c.95149G>A

1 paper

NM_001267550.2

p.Q31722*

c.95164C>T

1 paper

NM_001267550.2

p.C31725R

c.95173T>C