Varaico: Literature-Extracted Genetic Variants

FSHR

709 papers

RefSeq Summary

The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene caus...

Pfam Domains

LRRNTaa 17–45UCSCLeucine rich repeat N-terminal domain

LRR_5aa 38–150UCSCBspA type Leucine rich repeat region (6 copies)

LRR_5aa 139–256UCSCBspA type Leucine rich repeat region (6 copies)

GnHR_transaa 282–349UCSCGonadotropin hormone receptor transmembrane region

7tm_1aa 379–626UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

follicle stimulating hormone receptor

HGNC Previous Symbol

ODG1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000145.4

p.E319D

c.957G>T

Surrounding Variants

1 paper

NM_000145.4

p.E319D

c.957G>C

1 paper

NM_000145.4

p.S321R

c.961A>C

2 papers

NM_000145.4

p.D327N

c.979G>A

1 paper

NM_000145.4

p.G325_F326del2

c.973_977del6

1 paper

NM_000145.4

p.Q310*

c.928C>T

1 paper

NM_000145.4

p.G309V

c.926G>T

2 papers

NM_000145.4

p.G309A

c.926G>C

1 paper

NM_000145.4

p.Y330F

c.989A>T

1 paper

NM_000145.4

p.E332K

c.994G>A

1 paper

NM_000145.4

p.A307G

c.920C>G

2 papers

NM_000145.4

p.A307S

c.919G>T

122 papers

NM_000145.4

p.A307T

c.919G>A