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

4 papers

NM_001017975.6

p.F611Splc

c.1832-2A>T

Surrounding Variants

1 paper

NM_001017975.6

p.M618V

c.1852A>G

2 papers

NM_001017975.6

p.V627A

c.1880T>C

1 paper

NM_001017975.6

p.Y635*

c.1905T>G

1 paper

NM_001017975.6

p.Y635*

c.1905T>A

1 paper

NM_001017975.6

p.Q650Q

c.1950G>A

1 paper

NM_001017975.6

p.Q650_I652del0

c.1948_1956del9

1 paper

NM_001017975.6

p.G653G

c.1959T>C

1 paper

NM_001017975.6

p.L649_G653delFs

c.1946_1958del13

1 paper

NM_001017975.6

p.P658S

c.1972C>T

1 paper

NM_001017975.6

p.E599K

c.1795G>A

1 paper

NM_001017975.6

p.V598L

c.1792G>C

1 paper

NM_001017975.6

p.D594N

c.1780G>A