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.R677G

c.2029A>G

Surrounding Variants

3 papers

NM_000145.4

p.S680G

c.2038A>G

146 papers

NM_000145.4

p.S680N

c.2039G>A

1 paper

NM_000145.4

p.C672Y

c.2015G>A

1 paper

NM_000145.4

p.G670D

c.2009G>A

1 paper

NM_000145.4

p.G670R

c.2008G>C

1 paper

NM_000145.4

p.I685I

c.2055A>C

1 paper

NM_000145.4

p.P688S

c.2062C>T

3 papers

NM_000145.4

p.P688T

c.2062C>A

2 papers

NM_000145.4

p.T665A

c.1993A>G

1 paper

NM_000145.4

p.S690N

c.2069G>A

1 paper

NM_000145.4

p.S659A

c.1975T>G

3 papers

NM_000145.4

p.T658S

c.1973C>G