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.E849fs

c.2545_2546fs

Surrounding Variants

1 paper

NM_001130009.3

p.K848_E849delFs

c.2542_2545del4

1 paper

NM_001130009.3

p.P843S

c.2527C>T

1 paper

NM_001130009.3

p.S856Y

c.2567C>A

1 paper

NM_001130009.3

p.S856F

c.2567C>T

7 papers

NM_001130009.3

p.K839fs

c.2515_2516fs

1 paper

NM_001130009.3

p.K839E

c.2515A>G

1 paper

NM_001130009.3

p.K839*

c.2515A>T

3 papers

NM_001130009.3

p.K839fs

c.2515_2516fs

10 papers

NM_001130009.3

p.K839_L840delFs

c.2515_2519del5

1 paper

NM_001130009.3

p.K839_L840del2

c.2515_2519del6

1 paper

NM_001130009.3

p.N838_L840delFs

c.2514_2518del5

1 paper

NM_001130009.3

p.N838fs

c.2512_2513fs