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

4 papers

NM_000145.4

p.S524R

c.1572C>G

Surrounding Variants

4 papers

NM_000145.4

p.S524R

c.1572C>A

1 paper

NM_000145.4

p.P525L

c.1574C>T

4 papers

NM_000145.4

p.S524R

c.1570A>C

1 paper

NM_000145.4

p.Q528R

c.1583A>G

1 paper

NM_000145.4

p.P519H

c.1556C>A

38 papers

NM_000145.4

p.P519T

c.1555C>A

2 papers

NM_000145.4

p.Y530F

c.1589A>T

1 paper

NM_000145.4

p.V531A

c.1592T>C

1 paper

NM_000145.4

p.S533A

c.1597T>G

5 papers

NM_000145.4

p.V514A

c.1541T>C

1 paper

NM_000145.4

p.L535delFs

c.1605delA

1 paper

NM_000145.4

p.K513M

c.1538A>T