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.K793N

c.2379G>T

Surrounding Variants

1 paper

NM_001130009.3

p.K793N

c.2379G>C

1 paper

NM_001130009.3

p.S794N

c.2381G>A

1 paper

NM_001130009.3

p.M783I

c.2349G>A

1 paper

NM_001130009.3

p.M783I

c.2349G>C

1 paper

NM_001130009.3

p.M783I

c.2349G>T

1 paper

NM_001130009.3

p.R779G

c.2335A>G

1 paper

NM_001130009.3

p.D776G

c.2327A>G

1 paper

NM_001130009.3

p.G811G

c.2433G>T

1 paper

NM_001130009.3

p.K812R

c.2435A>G

4 papers

NM_001130009.3

p.Y815Y

c.2445C>T

4 papers

NM_001130009.3

p.T817A

c.2449A>G

1 paper

NM_001130009.3

p.C766R

c.2296T>C