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.T449N

c.1346C>A

Surrounding Variants

28 papers

NM_000145.4

p.T449I

c.1346C>T

26 papers

NM_000145.4

p.T449A

c.1345A>G

1 paper

NM_000145.4

p.F447_F448ins0

c.1339_1344dup6

1 paper

NM_000145.4

p.V450A

c.1349T>C

2 papers

NM_000145.4

p.V450D

c.1349T>A

1 paper

NM_181446.3

p.A419T

c.1255G>A

3 papers

NM_000145.4

p.A444T

c.1330G>A

2 papers

NM_000145.4

p.L455R

c.1364T>G

3 papers

NM_000145.4

p.L460R

c.1379T>G

3 papers

NM_000145.4

p.T438I

c.1313C>T

2 papers

NM_000145.4

p.T461I

c.1382C>T

1 paper

NM_000145.4

p.T461R

c.1382C>G