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

1–12 of 314 variants

17 papers

NM_001017975.6

p.C1157Y

c.3470G>A

10 papers

NM_001017975.6

p.I884S

c.2651T>G

8 papers

NM_001017975.6

p.I117V

c.349A>G

8 papers

NM_001017975.6

p.R562Splc

c.1686-1G>C

7 papers

NM_001017975.6

p.L491P

c.1472T>C

7 papers

NM_001017975.6

p.Q1164*

c.3490C>T

6 papers

NM_001017975.6

p.R452Q

c.1355G>A

6 papers

NM_001017975.6

p.Q659_F660Splc

c.1978-2A>C

6 papers

NM_001017975.6

p.G736S

c.2206G>A

6 papers

NM_001017975.6

p.G736S

c.2206G>A

6 papers

NM_001017975.6

p.T854_R855delFs

c.2562_2563delTT

6 papers

NM_001017975.6

p.K1196_I1197Splc

c.3588+1G>A