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.A499V

c.1496C>T

Surrounding Variants

1 paper

NM_000145.4

p.A497A

c.1491T>C

1 paper

NM_000145.4

p.A501T

c.1501G>A

4 papers

NM_000145.4

p.L502P

c.1505T>C

1 paper

NM_000145.4

p.L502L

c.1506C>T

6 papers

NM_000145.4

p.P504S

c.1510C>T

1 paper

NM_000145.4

p.I505V

c.1513A>G

1 paper

NM_000145.4

p.V491A

c.1472T>C

1 paper

NM_000145.4

p.G507G

c.1521C>G

1 paper

NM_000145.4

p.I508N

c.1523T>A

3 papers

NM_000145.4

p.Y511C

c.1532A>G

9 papers

NM_000145.4

p.M512I

c.1536G>T

9 papers

NM_000145.4

p.M512I

c.1536G>C