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

5 papers

NM_000234.3

p.V753M

c.2257G>A

Surrounding Variants

1 paper

NM_000234.3

p.L757R

c.2270T>G

3 papers

NM_000234.3

p.Y765*

c.2295C>G

3 papers

NM_000234.3

p.Y765*

c.2295C>A

1 paper

NM_000234.3

p.R768W

c.2302C>T

1 paper

NM_000234.3

p.R768Q

c.2303G>A

26 papers

NM_000234.3

p.R771W

c.2311C>T

3 papers

NM_000234.3

p.R771G

c.2311C>G

1 paper

NM_000234.3

p.R771Q

c.2312G>A

1 paper

NM_000234.3

p.E785K

c.2353G>A

1 paper

NM_000234.3

p.V715L

c.2143G>T

1 paper

NM_000234.3

p.V715L

c.2143G>C

1 paper

NM_000234.3

p.S714*

c.2141C>G