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.W176*

c.527G>A

Surrounding Variants

1 paper

NM_000145.4

p.W176*

c.528G>A

1 paper

NM_000145.4

p.L175Splc

c.525-2A>C

1 paper

NM_000145.4

p.N178Y

c.532A>T

4 papers

NM_000145.4

p.N178D

c.532A>G

1 paper

NM_000145.4

p.G181R

c.541G>A

1 paper

NM_000145.4

p.Q183R

c.548A>G

1 paper

NM_000145.4

p.Q183Q

c.549A>G

1 paper

NM_000145.4

p.E184K

c.550G>A

3 papers

NM_000145.4

p.I185L

c.553A>T

3 papers

NM_000145.4

p.H186Y

c.556C>T

1 paper

NM_000145.4

p.H186P

c.557A>C

1 paper

NM_000145.4

p.C188G

c.562T>G