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.Q299P

c.896A>C

Surrounding Variants

1 paper

NM_000145.4

p.L297_R298insD

c.889_893ins3

1 paper

NM_000145.4

p.L297V

c.889T>G

1 paper

NM_000145.4

p.R298_V301del4

c.892_902del12

1 paper

NM_000145.4

p.N293_S295del3

c.877_884del9

1 paper

NM_000145.4

p.S295F

c.884C>T

1 paper

NM_000145.4

p.Y303*

c.909T>G

3 papers

NM_000145.4

p.S295P

c.883T>C

1 paper

NM_000145.4

p.Y303*

c.909T>A

1 paper

NM_000145.4

p.M304V

c.910A>G

2 papers

NM_000145.4

p.A307S

c.919G>T

122 papers

NM_000145.4

p.A307T

c.919G>A

1 paper

NM_000145.4

p.A307G

c.920C>G