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.G938Splc

c.2813-5C>A

Surrounding Variants

5 papers

NM_001017975.6

p.I939V

c.2815A>G

1 paper

NM_001017975.6

p.I945_A948del4

c.2833_2843del12

1 paper

NM_001017975.6

p.L966L

c.2896T>C

3 papers

NM_001017975.6

p.I967fs

c.2899_2900fs

3 papers

NM_001017975.6

p.I967delFs

c.2899delT

1 paper

NM_001017975.6

p.F974fs

c.2920_2921fs

1 paper

NM_001017975.6

p.P973delFs

c.2919delG

2 papers

NM_001017975.6

p.V982M

c.2944G>A

1 paper

NM_001017975.6

p.D1000fs

c.2998_2999fs

1 paper

NM_001017975.6

p.D1000_T1001delFs

c.2998_3001del4

1 paper

NM_001017975.6

p.T1001T

c.3003G>A

1 paper

NM_001017975.6

p.F1014delFs

c.3040delA