Varaico: Literature-Extracted Genetic Variants

OXT

124 papers

RefSeq Summary

This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalam...

Pfam Domains

Hormone_4aa 20–28UCSCNeurohypophysial hormones, N-terminal Domain

Hormone_5aa 39–116UCSCNeurohypophysial hormones, C-terminal Domain

Gene Aliases

HGNC Name

oxytocin/neurophysin I prepropeptide

HGNC Previous Symbol

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000915.4

p.V67A

c.200T>C

Surrounding Variants

1 paper

NM_000915.4

p.V67E

c.200T>A

1 paper

NM_000915.4

p.V67M

c.199G>A

1 paper

NM_000915.4

p.C65*

c.195C>A

1 paper

NM_000915.4

p.G64G

c.192C>A

1 paper

NM_000915.4

p.A70T

c.208G>A

1 paper

NM_000915.4

p.E71D

c.213A>C

1 paper

NM_000915.4

p.E71D

c.213A>T

1 paper

NM_000915.4

p.A72T

c.214G>A

1 paper

NM_000915.4

p.L73Q

c.218T>A

2 papers

NM_000915.4

p.E78del1

c.232_233delGAG

1 paper

NM_000915.4

p.E77G

c.230A>G

2 papers

NM_000915.4

p.E78G

c.233A>G