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.D153E

c.459T>A

Surrounding Variants

1 paper

NM_000145.4

p.D153E

c.459T>G

1 paper

NM_000145.4

p.D153A

c.458A>C

1 paper

NM_000145.4

p.D153N

c.457G>A

1 paper

NM_000145.4

p.I151I

c.453T>A

1 paper

NM_000145.4

p.I151V

c.451A>G

1 paper

NM_000145.4

p.D150E

c.450C>G

1 paper

NM_000145.4

p.D150E

c.450C>A

1 paper

NM_000145.4

p.D150V

c.449A>T

1 paper

NM_000145.4

p.D150A

c.449A>C

1 paper

NM_000145.4

p.I157S

c.470T>G

2 papers

NM_000145.4

p.I157N

c.470T>A

1 paper

NM_000145.4

p.D150N

c.448G>A