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

6 papers

NM_001017975.6

p.T854_R855delFs

c.2562_2563delTT

Surrounding Variants

4 papers

NM_001017975.6

p.E856fs

c.2566_2567fs

2 papers

NM_001017975.6

p.E856fs

c.2566_2567fs

1 paper

NM_001017975.6

p.C861Splc

c.2582+7A>G

1 paper

NM_001017975.6

p.R845K

c.2534G>A

1 paper

NM_001017975.6

p.R845K

c.2534G>A

2 papers

NM_001017975.6

p.R841Q

c.2522G>A

1 paper

NM_001017975.6

p.R841W

c.2521C>T

1 paper

NM_001017975.6

p.T834insFs

c.2500_2501insC

5 papers

NM_001017975.6

p.K829_T831delFs

c.2487_2491del5

1 paper

NM_001017975.6

p.K829fs

c.2485_2486fs

4 papers

NM_001017975.6

p.K829fs

c.2485_2486fs

1 paper

NM_001017975.6

p.E828K

c.2482G>A