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

1 paper

NM_001017975.6

p.D770N

c.2308G>A

Surrounding Variants

1 paper

NM_001017975.6

p.K768_M769delFs

c.2303_2306del4

1 paper

NM_001017975.6

p.M769V

c.2305A>G

1 paper

NM_001017975.6

p.N774fs

c.2320_2321fs

2 papers

NM_001017975.6

p.F775L

c.2323T>C

2 papers

NM_001017975.6

p.F775L

c.2325C>G

2 papers

NM_001017975.6

p.F775L

c.2325C>A

1 paper

NM_001017975.6

p.K776Q

c.2326A>C

2 papers

NM_001017975.6

p.I746V

c.2236A>G

1 paper

NM_001017975.6

p.D744G

c.2231A>G

1 paper

NM_001017975.6

p.G740_L741delFs

c.2220_2223del4

6 papers

NM_001017975.6

p.G736S

c.2206G>A

6 papers

NM_001017975.6

p.G736S

c.2206G>A