Varaico: Literature-Extracted Genetic Variants

GEN1

207 papers

RefSeq Summary

This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed...

Pfam Domains

XPG_Naa 1–96UCSCXPG N-terminal domain

XPG_Iaa 125–208UCSCXPG I-region

Chromo_2aa 398–458UCSCChromatin organization modifier domain 2

Gene Aliases

HGNC Name

GEN1 Holliday junction 5' flap endonuclease

HGNC Alias Symbol

FLJ40869

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001130009.3

p.E134A

c.401A>C

Surrounding Variants

1 paper

NM_001130009.3

p.A135T

c.403G>A

3 papers

NM_001130009.3

p.E136A

c.407A>C

1 paper

NM_001130009.3

p.I126V

c.376A>G

1 paper

NM_001130009.3

p.N143D

c.427A>G

9 papers

NM_001130009.3

p.N143S

c.428A>G

1 paper

NM_001130009.3

p.E122A

c.365A>C

1 paper

NM_001130009.3

p.E122Q

c.364G>C

1 paper

NM_001130009.3

p.V148A

c.443T>C

1 paper

NM_001130009.3

p.D149N

c.445G>A

1 paper

NM_001130009.3

p.C151Y

c.452G>A

1 paper

NM_001130009.3

p.L152F

c.454C>T

1 paper

NM_001130009.3

p.E116_C117Splc

c.349-2A>G