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.I550T

c.1649T>C

Surrounding Variants

1 paper

NM_000145.4

p.G547C

c.1639G>T

1 paper

NM_000145.4

p.L554P

c.1661T>C

17 papers

NM_000145.4

p.I545T

c.1634T>C

1 paper

NM_000145.4

p.I545N

c.1634T>A

2 papers

NM_000145.4

p.T555I

c.1664C>T

1 paper

NM_000145.4

p.I545F

c.1633A>T

1 paper

NM_000145.4

p.I545V

c.1633A>G

1 paper

NM_000145.4

p.I545L

c.1633A>C

1 paper

NM_000145.4

p.R557W

c.1669C>T

1 paper

NM_000145.4

p.N558Y

c.1672A>T

4 papers

NM_000145.4

p.N558H

c.1672A>C

1 paper

NM_000145.4

p.N558N

c.1674C>T