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

1–12 of 513 variants

156 papers

NM_000145.4

p.A189V

c.566C>T

146 papers

NM_000145.4

p.S680N

c.2039G>A

122 papers

NM_000145.4

p.A307T

c.919G>A

60 papers

NM_000145.4

p.I160T

c.479T>C

50 papers

NM_000145.4

p.R573C

c.1717C>T

48 papers

NM_000145.4

p.D567G

c.1700A>G

42 papers

NM_000145.4

p.D71Y

c.211G>T

42 papers

NM_000145.4

p.A419T

c.1255G>A

40 papers

NM_000145.4

p.D224V

c.671A>T

38 papers

NM_000145.4

p.P519T

c.1555C>A

38 papers

NM_000145.4

p.L601V

c.1801C>G

31 papers

NM_000145.4

p.P348R

c.1043C>G