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.S420*

c.1259C>A

Surrounding Variants

1 paper

NM_000145.4

p.S420*

c.1259C>G

1 paper

NM_000145.4

p.V421I

c.1261G>A

42 papers

NM_000145.4

p.A419T

c.1255G>A

14 papers

NM_000145.4

p.I418S

c.1253T>G

1 paper

NM_000145.4

p.I418T

c.1253T>C

1 paper

NM_000145.4

p.A419_V421del3

c.1255_1262del9

5 papers

NM_000145.4

p.I423T

c.1268T>C

1 paper

NM_000145.4

p.T425I

c.1274C>T

1 paper

NM_000145.4

p.T425T

c.1275C>A

1 paper

NM_000145.4

p.G412A

c.1235G>C

1 paper

NM_000145.4

p.I411M

c.1233T>G

4 papers

NM_000145.4

p.I411N

c.1232T>A