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.H158Q

c.474C>A

Surrounding Variants

1 paper

NM_000145.4

p.H158Q

c.474C>G

1 paper

NM_000145.4

p.T159A

c.475A>G

1 paper

NM_000145.4

p.H158R

c.473A>G

1 paper

NM_000145.4

p.T159K

c.476C>A

1 paper

NM_000145.4

p.I157S

c.470T>G

2 papers

NM_000145.4

p.I157N

c.470T>A

60 papers

NM_000145.4

p.I160T

c.479T>C

1 paper

NM_000145.4

p.I160I

c.480T>C

4 papers

NM_000145.4

p.E161G

c.482A>G

1 paper

NM_000145.4

p.E161A

c.482A>C

2 papers

NM_000145.4

p.R162K

c.485G>A

1 paper

NM_000145.4

p.D153E

c.459T>G