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.I517M

c.1551C>G

Surrounding Variants

1 paper

NM_000234.3

p.R515L

c.1544G>T

1 paper

NM_000234.3

p.R515*

c.1543C>T

1 paper

NM_000234.3

p.D512E

c.1536C>G

1 paper

NM_000234.3

p.D512E

c.1536C>A

1 paper

NM_000234.3

p.D512N

c.1534G>A

1 paper

NM_000234.3

p.E509K

c.1525G>A

1 paper

NM_000234.3

p.E526E

c.1578A>G

14 papers

NM_000234.3

p.P529L

c.1586C>T

1 paper

NM_000234.3

p.M543V

c.1627A>G

1 paper

NM_000234.3

p.R549Q

c.1646G>A

1 paper

NM_000234.3

p.G550R

c.1648G>C

1 paper

NM_000234.3

p.R557C

c.1669C>T