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

6 papers

NM_001017975.6

p.K1196_I1197Splc

c.3588+1G>A

Surrounding Variants

1 paper

NM_001017975.6

p.R1194H

c.3581G>A

3 papers

NM_001017975.6

p.R1194C

c.3580C>T

2 papers

NM_001017975.6

p.K1193E

c.3577A>G

1 paper

NM_001017975.6

p.P1190S

c.3568C>T

1 paper

NM_001017975.6

p.V1189F

c.3565G>T

7 papers

NM_001017975.6

p.Q1164*

c.3490C>T

1 paper

NM_001017975.6

p.A1163insFs

c.3488_3489insA

1 paper

NM_001017975.6

p.G1161_V1162insFs

c.3483_3484dupAG

1 paper

NM_001017975.6

p.G1161E

c.3482G>A

1 paper

NM_001017975.6

p.K1159N

c.3477A>T

1 paper

NM_001017975.6

p.K1159N

c.3477A>C

1 paper

NM_001017975.6

p.C1157S

c.3470G>C