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.S596S

c.1788C>T

Surrounding Variants

1 paper

NM_000145.4

p.S596S

c.1788C>A

6 papers

NM_000145.4

p.L597I

c.1789C>A

3 papers

NM_000145.4

p.P600T

c.1798C>A

1 paper

NM_000145.4

p.I593L

c.1777A>C

38 papers

NM_000145.4

p.L601V

c.1801C>G

1 paper

NM_000145.4

p.A592G

c.1775C>G

23 papers

NM_000145.4

p.F591S

c.1772T>C

1 paper

NM_000145.4

p.I602delFs

c.1804delT

1 paper

NM_000145.4

p.I602fs

c.1804_1805fs

1 paper

NM_000145.4

p.V604A

c.1811T>C

1 paper

NM_000145.4

p.I588T

c.1763T>C

19 papers

NM_000145.4

p.P587H

c.1760C>A