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

2 papers

NM_001130009.3

p.K764N

c.2292G>C

Surrounding Variants

2 papers

NM_001130009.3

p.K764N

c.2292G>T

1 paper

NM_001130009.3

p.T765S

c.2293A>T

1 paper

NM_001130009.3

p.T765S

c.2294C>G

1 paper

NM_001130009.3

p.C766R

c.2296T>C

1 paper

NM_001130009.3

p.V763I

c.2287G>A

1 paper

NM_001130009.3

p.P755S

c.2263C>T

1 paper

NM_001130009.3

p.D776G

c.2327A>G

1 paper

NM_001130009.3

p.R779G

c.2335A>G

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.L743R

c.2228T>G