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.K443R

c.1328A>G

Surrounding Variants

1 paper

NM_001017975.6

p.S446N

c.1337G>A

1 paper

NM_001017975.6

p.I449I

c.1347T>A

2 papers

NM_001017975.6

p.V435delFs

c.1303_1304delAC

1 paper

NM_001017975.6

p.V435A

c.1304T>C

1 paper

NM_001017975.6

p.M451delFs

c.1351delT

1 paper

NM_001017975.6

p.V435fs

c.1303_1304fs

1 paper

NM_001017975.6

p.R452*

c.1354C>T

6 papers

NM_001017975.6

p.R452Q

c.1355G>A

1 paper

NM_001017975.6

p.E419*

c.1255G>T

4 papers

NM_001017975.6

p.H414P

c.1241A>C

1 paper

NM_001017975.6

p.D411V

c.1232A>T

1 paper

NM_001017975.6

p.D411A

c.1232A>C