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

3 papers

NM_000145.4

p.N240S

c.719A>G

Surrounding Variants

1 paper

NM_000145.4

p.E239E

c.717A>G

2 papers

NM_000145.4

p.K243E

c.727A>G

1 paper

NM_000145.4

p.L244L

c.730C>T

1 paper

NM_000145.4

p.H231_L233del0

c.691_699del9

1 paper

NM_000145.4

p.H231_S232del2

c.691_695del6

1 paper

NM_000145.4

p.R247insFs

c.739dupA

1 paper

NM_000145.4

p.R247T

c.740G>C

1 paper

NM_181446.3

p.Y224F

c.671A>T

1 paper

NM_000145.4

p.Y250*

c.750C>G

1 paper

NM_000145.4

p.Y250*

c.750C>A

1 paper

NM_000145.4

p.L252S

c.755T>C

1 paper

NM_000145.4

p.T228I

c.683C>T