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.D676E

c.2028C>A

Surrounding Variants

1 paper

NM_001017975.6

p.D676E

c.2028C>G

2 papers

NM_001017975.6

p.D676fs

c.2026_2027fs

2 papers

NM_001017975.6

p.D676_K677delFs

c.2028_2029delTG

1 paper

NM_001017975.6

p.I679_Q680delFs

c.2035_2038del4

1 paper

NM_001017975.6

p.Y678_M681del4

c.2032_2042del12

2 papers

NM_001017975.6

p.R671*

c.2011C>T

1 paper

NM_001017975.6

p.T670I

c.2009C>T

1 paper

NM_001017975.6

p.C684S

c.2050T>A

1 paper

NM_001017975.6

p.C684S

c.2051G>C

1 paper

NM_001017975.6

p.A664V

c.1991C>T

1 paper

NM_001017975.6

p.Q659_F660Splc

c.1978-1G>C

6 papers

NM_001017975.6

p.Q659_F660Splc

c.1978-2A>C