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.M1L

c.1A>C

Surrounding Variants

11 papers

NM_000234.3

p.R3*

c.7C>T

3 papers

NM_000234.3

p.M6Splc

c.17+12C>T

1 paper

NM_000234.3

p.S7T

c.19T>A

1 paper

NM_000234.3

p.S7S

c.21A>G

1 paper

NM_000234.3

p.F9I

c.25T>A

1 paper

NM_000234.3

p.K13R

c.38A>G

2 papers

NM_000234.3

p.A17E

c.50C>A

1 paper

NM_000234.3

p.A24T

c.70G>A

3 papers

NM_000234.3

p.A24V

c.71C>T

1 paper

NM_000234.3

p.V45L

c.133G>T

1 paper

NM_000234.3

p.S47F

c.140C>T

1 paper

NM_000234.3

p.S51A

c.151T>G