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

40 papers

NM_000145.4

p.D224V

c.671A>T

Surrounding Variants

1 paper

NM_000145.4

p.D224G

c.671A>G

1 paper

NM_000145.4

p.D224A

c.671A>C

1 paper

NM_000145.4

p.D224Y

c.670G>T

1 paper

NM_000145.4

p.L223L

c.669A>G

1 paper

NM_000145.4

p.S226A

c.676T>G

2 papers

NM_000145.4

p.S226L

c.677C>T

1 paper

NM_000145.4

p.T228A

c.682A>G

1 paper

NM_000145.4

p.T228I

c.683C>T

1 paper

NM_000145.4

p.H231_S232del2

c.691_695del6

1 paper

NM_000145.4

p.H231_L233del0

c.691_699del9

1 paper

NM_000145.4

p.E239E

c.717A>G

3 papers

NM_000145.4

p.N240S

c.719A>G