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

2 papers

NM_000145.4

p.C275*

c.825C>A

Surrounding Variants

2 papers

NM_000145.4

p.A277V

c.830C>T

1 paper

NM_000145.4

p.A277G

c.830C>G

1 paper

NM_000145.4

p.A277delins

c.830_831delinsTT

8 papers

NM_000145.4

p.S273I

c.818G>T

1 paper

NM_000145.4

p.F278C

c.833T>G

1 paper

NM_000145.4

p.S268insFs

c.804dupC

7 papers

NM_000145.4

p.R283W

c.847C>T

1 paper

NM_000145.4

p.R283Q

c.848G>A

1 paper

NM_000145.4

p.E266K

c.796G>A

6 papers

NM_000145.4

p.M265V

c.793A>G

4 papers

NM_000145.4

p.A263ins1

c.788_789insTCT

1 paper

NM_000145.4

p.P256S

c.766C>T