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

10 papers

NM_001017975.6

p.I884S

c.2651T>G

Surrounding Variants

1 paper

NM_001017975.6

p.I884T

c.2651T>C

1 paper

NM_001017975.6

p.R886fs

c.2656_2657fs

1 paper

NM_001017975.6

p.H887Y

c.2659C>T

1 paper

NM_001017975.6

p.T881N

c.2642C>A

1 paper

NM_001017975.6

p.R893delFs

c.2677delT

4 papers

NM_001017975.6

p.W894Splc

c.2681-3T>A

3 papers

NM_001017975.6

p.W894fs

c.2680_2681fs

1 paper

NM_001017975.6

p.K922*

c.2764A>T

1 paper

NM_001017975.6

p.G938_I939insGTT

c.2812_2816ins9

1 paper

NM_001017975.6

p.G938Splc

c.2813-5C>A

5 papers

NM_001017975.6

p.I939V

c.2815A>G

1 paper

NM_001017975.6

p.I945_A948del4

c.2833_2843del12