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.L72R

c.215T>G

Surrounding Variants

1 paper

NM_000145.4

p.L72Q

c.215T>A

1 paper

NM_000145.4

p.E73G

c.218A>G

42 papers

NM_000145.4

p.D71Y

c.211G>T

1 paper

NM_000145.4

p.D71N

c.211G>A

1 paper

NM_000145.4

p.G70G

c.210G>T

1 paper

NM_000145.4

p.K74E

c.220A>G

1 paper

NM_000145.4

p.G70A

c.209G>C

1 paper

NM_000145.4

p.G70W

c.208G>T

1 paper

NM_000145.4

p.G68E

c.203G>A

1 paper

NM_000145.4

p.G68*

c.202G>T

1 paper

NM_000145.4

p.I75Splc

c.224+5G>A

1 paper

NM_000145.4

p.S67S

c.201A>C