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

1 paper

NM_000234.3

p.K607_I608Splc

c.1821+169A>G

Surrounding Variants

1 paper

NM_000234.3

p.K607_I608Splc

c.1821+35G>A

1 paper

NM_000234.3

p.D600A

c.1799A>C

14 papers

NM_000234.3

p.E592A

c.1775A>C

1 paper

NM_000234.3

p.R589W

c.1765A>T

1 paper

NM_000234.3

p.Q575_I576Splc

c.1725+1G>A

1 paper

NM_000234.3

p.R573M

c.1718G>T

1 paper

NM_000234.3

p.G571V

c.1712G>T

1 paper

NM_000234.3

p.G571A

c.1712G>C

1 paper

NM_000234.3

p.D570E

c.1710C>G

1 paper

NM_000234.3

p.D570E

c.1710C>A

2 papers

NM_000234.3

p.D570N

c.1708G>A

1 paper

NM_000234.3

p.Y569F

c.1706A>T