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.K795_L796Splc

c.2386-83G>T

Surrounding Variants

1 paper

NM_000234.3

p.G799R

c.2395G>C

4 papers

NM_000234.3

p.D802D

c.2406T>C

1 paper

NM_000234.3

p.E803K

c.2407G>A

2 papers

NM_000234.3

p.A814A

c.2442G>C

1 paper

NM_000234.3

p.R825W

c.2473C>T

1 paper

NM_000234.3

p.S839N

c.2516G>A

5 papers

NM_000234.3

p.K845N

c.2535G>T

5 papers

NM_000234.3

p.K845N

c.2535G>C

1 paper

NM_000234.3

p.L849L

c.2547C>A

1 paper

NM_000234.3

p.I854M

c.2562C>G

1 paper

NM_000234.3

p.Y855F

c.2564A>T

1 paper

NM_000234.3

p.A858S

c.2572G>T