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

1 paper

NM_001130009.3

p.S512A

c.1534T>G

Surrounding Variants

1 paper

NM_001130009.3

p.D514N

c.1540G>A

3 papers

NM_001130009.3

p.S509W

c.1526C>G

2 papers

NM_001130009.3

p.S509L

c.1526C>T

2 papers

NM_001130009.3

p.S525L

c.1574C>T

1 paper

NM_001130009.3

p.T535A

c.1603A>G

1 paper

NM_001130009.3

p.C537R

c.1609T>C

1 paper

NM_001130009.3

p.E542K

c.1624G>A

1 paper

NM_001130009.3

p.P481S

c.1441C>T

3 papers

NM_001130009.3

p.S546S

c.1638T>A

1 paper

NM_001130009.3

p.I553V

c.1657A>G

1 paper

NM_001130009.3

p.R470H

c.1409G>A

1 paper

NM_001130009.3

p.S562_L563del2

c.1684_1688del6