Varaico: Literature-Extracted Genetic Variants

LIG1

260 papers

RefSeq Summary

This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene...

Pfam Domains

DNA_ligase_A_Naa 220–396UCSCDNA ligase N terminus

DNA_ligase_A_Maa 474–678UCSCATP dependent DNA ligase domain

DNA_ligase_A_Caa 703–814UCSCATP dependent DNA ligase C terminal region

Gene Aliases

HGNC Name

DNA ligase 1

HGNC Alias Symbols

LIGI; hLig1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000234.3

p.F635L

c.1905C>G

Surrounding Variants

4 papers

NM_000234.3

p.F635L

c.1905C>A

4 papers

NM_000234.3

p.F635L

c.1903T>C

1 paper

NM_000234.3

p.Q636L

c.1907A>T

1 paper

NM_000234.3

p.R641C

c.1921C>T

1 paper

NM_000234.3

p.R641S

c.1921C>A

24 papers

NM_000234.3

p.R641L

c.1922G>T

1 paper

NM_000234.3

p.K629N

c.1887G>T

1 paper

NM_000234.3

p.K629N

c.1887G>C

1 paper

NM_000234.3

p.R627W

c.1879C>T

3 papers

NM_000234.3

p.A624T

c.1870G>A

1 paper

NM_000234.3

p.D619V

c.1856A>T

1 paper

NM_000234.3

p.I617M

c.1851C>G