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.T388N

c.1163C>A

Surrounding Variants

1 paper

NM_000145.4

p.T388I

c.1163C>T

2 papers

NM_000145.4

p.T389I

c.1166C>T

1 paper

NM_000145.4

p.S390R

c.1168A>C

1 paper

NM_000145.4

p.S390R

c.1170C>G

1 paper

NM_000145.4

p.S390R

c.1170C>A

1 paper

NM_000145.4

p.Y392*

c.1176T>G

1 paper

NM_000145.4

p.V383V

c.1149G>A

1 paper

NM_000145.4

p.V383A

c.1148T>C

1 paper

NM_000145.4

p.K393_T395delFs

c.1178_1185del8

1 paper

NM_000145.4

p.N380S

c.1139A>G

1 paper

NM_000145.4

p.T378A

c.1132A>G

1 paper

NM_000145.4

p.I377T

c.1130T>C