Varaico: Literature-Extracted Genetic Variants

HFM1

182 papers

RefSeq Summary

The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [pro...

Pfam Domains

DEADaa 282–466UCSCDEAD/DEAH box helicase

Helicase_Caa 515–659UCSCHelicase conserved C-terminal domain

WHD_SNRNP200aa 689–771UCSCWinged Helix-turn-helix domain

Sec63aa 777–1091UCSCSec63 Brl domain

Gene Aliases

HGNC Name

helicase for meiosis 1

HGNC Previous Symbol

SEC63D1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_001017975.6

p.R562Splc

c.1686-1G>C

Surrounding Variants

1 paper

NM_001017975.6

p.R571G

c.1711A>G

4 papers

NM_001017975.6

p.D577Splc

c.1730-1G>T

1 paper

NM_001017975.6

p.D577G

c.1730A>G

1 paper

NM_001017975.6

p.G582S

c.1744G>A

2 papers

NM_001017975.6

p.A583G

c.1748C>G

1 paper

NM_001017975.6

p.H586R

c.1757A>G

1 paper

NM_001017975.6

p.H587N

c.1759C>A

1 paper

NM_001017975.6

p.S593P

c.1777T>C

1 paper

NM_001017975.6

p.D594N

c.1780G>A

1 paper

NM_001017975.6

p.V598L

c.1792G>C

1 paper

NM_001017975.6

p.E599K

c.1795G>A

4 papers

NM_001017975.6

p.F611Splc

c.1832-2A>T