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.I117V

c.349A>G

Surrounding Variants

5 papers

NM_001017975.6

p.S115P

c.343T>C

1 paper

NM_001017975.6

p.G119S

c.355G>A

1 paper

NM_001017975.6

p.K120N

c.360G>T

1 paper

NM_001017975.6

p.K120N

c.360G>C

1 paper

NM_001017975.6

p.D113G

c.338A>G

1 paper

NM_001017975.6

p.L121_T122ins1

c.363_364insACA

1 paper

NM_001017975.6

p.T122A

c.364A>G

1 paper

NM_001017975.6

p.T122I

c.365C>T

1 paper

NM_001017975.6

p.A124ins1

c.371_372insACA

1 paper

NM_001017975.6

p.V109Fs

c.326delinsGGAAGGTGAGCTATFs

1 paper

NM_001017975.6

p.V109L

c.325G>T

1 paper

NM_001017975.6

p.V109L

c.325G>C