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.Y292delFs

c.875_876delAT

Surrounding Variants

1 paper

NM_001130009.3

p.D291Y

c.871G>T

1 paper

NM_001130009.3

p.C287_E288del2

c.859_863del6

1 paper

NM_001130009.3

p.W300_H301insFs

c.899_902dup4

5 papers

NM_001130009.3

p.R302H

c.905G>A

1 paper

NM_001130009.3

p.E304_E311del8

c.910_932del24

1 paper

NM_001130009.3

p.L280delFs

c.839_840delTA

1 paper

NM_001130009.3

p.L280del1

c.838_840delTTA

1 paper

NM_001130009.3

p.R307S

c.921G>C

1 paper

NM_001130009.3

p.R307S

c.921G>T

1 paper

NM_001130009.3

p.R275H

c.824G>A

1 paper

NM_001130009.3

p.R275L

c.824G>T

1 paper

NM_001130009.3

p.R275_N276delFs

c.824_827del4