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

6 papers

NM_000145.4

p.V341A

c.1022T>C

Surrounding Variants

1 paper

NM_000145.4

p.V342L

c.1024G>C

1 paper

NM_000145.4

p.E340Q

c.1018G>C

1 paper

NM_000145.4

p.D343D

c.1029C>T

1 paper

NM_000145.4

p.V344M

c.1030G>A

1 paper

NM_000145.4

p.V344A

c.1031T>C

1 paper

NM_000145.4

p.C338R

c.1012T>C

1 paper

NM_000145.4

p.D336G

c.1007A>G

1 paper

NM_000145.4

p.C346C

c.1038C>T

1 paper

NM_000145.4

p.Y335F

c.1004A>T

1 paper

NM_000145.4

p.S347S

c.1041C>A

1 paper

NM_000145.4

p.P348L

c.1043C>T

31 papers

NM_000145.4

p.P348R

c.1043C>G