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.D1035D

c.3105C>T

Surrounding Variants

5 papers

NM_001017975.6

p.G1034S

c.3100G>A

1 paper

NM_001017975.6

p.D1037G

c.3110A>G

1 paper

NM_001017975.6

p.N1038K

c.3114T>G

1 paper

NM_001017975.6

p.N1038K

c.3114T>A

1 paper

NM_001017975.6

p.Y1042insFs

c.3124dupT

1 paper

NM_001017975.6

p.Y1042fs

c.3124_3125fs

1 paper

NM_001017975.6

p.I1046S

c.3137T>G

1 paper

NM_001017975.6

p.T1047Splc

c.3140+1G>A

1 paper

NM_001017975.6

p.Q1018*

c.3052C>T

1 paper

NM_001017975.6

p.Q1018fs

c.3052_3053fs

1 paper

NM_001017975.6

p.L1017Fs

c.3050delinsTGFs

2 papers

NM_001017975.6

p.Q1016R

c.3047A>G