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

2 papers

NM_001017975.6

p.K493Q

c.1477A>C

Surrounding Variants

2 papers

NM_001017975.6

p.V494A

c.1481T>C

7 papers

NM_001017975.6

p.L491P

c.1472T>C

1 paper

NM_001017975.6

p.G497R

c.1489G>A

1 paper

NM_001017975.6

p.G497E

c.1490G>A

1 paper

NM_001017975.6

p.S502N

c.1505G>A

1 paper

NM_001017975.6

p.R475G

c.1423A>G

1 paper

NM_001017975.6

p.L513F

c.1537C>T

1 paper

NM_001017975.6

p.I517S

c.1550T>G

1 paper

NM_001017975.6

p.A518T

c.1552G>A

1 paper

NM_001017975.6

p.E468K

c.1402G>A

1 paper

NM_001017975.6

p.D465_I466Splc

c.1396-3A>G

1 paper

NM_001017975.6

p.Q541K

c.1621C>A