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.Y330F

c.989A>T

Surrounding Variants

1 paper

NM_000145.4

p.E332K

c.994G>A

1 paper

NM_000145.4

p.E332G

c.995A>G

1 paper

NM_000145.4

p.E332A

c.995A>C

3 papers

NM_000145.4

p.E332D

c.996G>T

3 papers

NM_000145.4

p.E332D

c.996G>C

1 paper

NM_000145.4

p.F333Y

c.998T>A

1 paper

NM_000145.4

p.G325_F326del2

c.973_977del6

2 papers

NM_000145.4

p.D327N

c.979G>A

1 paper

NM_000145.4

p.D334G

c.1001A>G

1 paper

NM_000145.4

p.Y335F

c.1004A>T

1 paper

NM_000145.4

p.D336G

c.1007A>G

1 paper

NM_000145.4

p.C338R

c.1012T>C