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.D869D

c.2607T>C

Surrounding Variants

1 paper

NM_001130009.3

p.D869G

c.2606A>G

5 papers

NM_001130009.3

p.S873R

c.2617A>C

5 papers

NM_001130009.3

p.S873R

c.2619T>A

5 papers

NM_001130009.3

p.S873R

c.2619T>G

1 paper

NM_001130009.3

p.S877C

c.2630C>G

2 papers

NM_001130009.3

p.L878P

c.2633T>C

2 papers

NM_001130009.3

p.H881P

c.2642A>C

7 papers

NM_001130009.3

p.K882E

c.2644A>G

1 paper

NM_001130009.3

p.S856Y

c.2567C>A

1 paper

NM_001130009.3

p.S856F

c.2567C>T

1 paper

NM_001130009.3

p.E849fs

c.2545_2546fs

1 paper

NM_001130009.3

p.K848_E849delFs

c.2542_2545del4