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.D97delFs

c.289_290delTC

Surrounding Variants

1 paper

NM_001017975.6

p.Q91_D97del7

c.271_290del21

1 paper

NM_001017975.6

p.E107*

c.319G>T

1 paper

NM_001017975.6

p.G108fs

c.322_323fs

1 paper

NM_001017975.6

p.V109L

c.325G>T

1 paper

NM_001017975.6

p.V109L

c.325G>C

1 paper

NM_001017975.6

p.V109Fs

c.326delinsGGAAGGTGAGCTATFs

1 paper

NM_001017975.6

p.S85*

c.254C>A

1 paper

NM_001017975.6

p.N82fs

c.244_245fs

1 paper

NM_001017975.6

p.D113G

c.338A>G

1 paper

NM_001017975.6

p.T81_N82insFs

c.243_244ins20

1 paper

NM_001017975.6

p.T81R

c.242C>G

5 papers

NM_001017975.6

p.S115P

c.343T>C