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

2 papers

NM_000145.4

p.V481L

c.1441G>C

Surrounding Variants

1 paper

NM_000145.4

p.V481L

c.1441G>T

1 paper

NM_000145.4

p.Q482*

c.1444C>T

1 paper

NM_000145.4

p.K480E

c.1438A>G

1 paper

NM_000145.4

p.R484H

c.1451G>A

1 paper

NM_000145.4

p.L477R

c.1430T>G

1 paper

NM_000145.4

p.L477P

c.1430T>C

1 paper

NM_000145.4

p.H473Y

c.1417C>T

1 paper

NM_000145.4

p.I471S

c.1412T>G

1 paper

NM_000145.4

p.I471F

c.1411A>T

1 paper

NM_000145.4

p.V491A

c.1472T>C

1 paper

NM_000145.4

p.T470A

c.1408A>G

1 paper

NM_000145.4

p.R467insFs

c.1400_1401insAC