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.E310K

c.928G>A

Surrounding Variants

2 papers

NM_000234.3

p.T311M

c.932C>T

2 papers

NM_000234.3

p.R305Q

c.914G>A

1 paper

NM_000234.3

p.S318F

c.953C>T

1 paper

NM_000234.3

p.L327F

c.979C>T

2 papers

NM_000234.3

p.L335F

c.1003C>T

1 paper

NM_000234.3

p.G344C

c.1030G>T

1 paper

NM_000234.3

p.L345P

c.1034T>C

14 papers

NM_000234.3

p.E346A

c.1037A>C

5 papers

NM_000234.3

p.V349M

c.1045G>A

NM_001289064.2

p.V281M

c.841G>A

1 paper

NM_000234.3

p.G350V

c.1049G>T

1 paper

NM_000234.3

p.G350G

c.1050T>C

1 paper

NM_000234.3

p.L355F

c.1063C>T