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.M576K

c.1727T>A

Surrounding Variants

2 papers

NM_000145.4

p.M576T

c.1727T>C

17 papers

NM_000145.4

p.A575V

c.1724C>T

2 papers

NM_000145.4

p.R573H

c.1718G>A

50 papers

NM_000145.4

p.R573C

c.1717C>T

2 papers

NM_000145.4

p.D581Y

c.1741G>T

5 papers

NM_000145.4

p.D581G

c.1742A>G

1 paper

NM_000145.4

p.F582L

c.1744T>C

1 paper

NM_000145.4

p.F582L

c.1746C>G

1 paper

NM_000145.4

p.F582L

c.1746C>A

2 papers

NM_000145.4

p.L583F

c.1747C>T

1 paper

NM_000145.4

p.R569M

c.1706G>T

2 papers

NM_000145.4

p.C584R

c.1750T>C