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

1 paper

NM_000915.4

p.G12V

c.35G>T

Surrounding Variants

1 paper

NM_000915.4

p.L10L

c.28C>T

1 paper

NM_000915.4

p.A15T

c.43G>A

2 papers

NM_000915.4

p.S18del1

c.52_53delTCC

1 paper

NM_000915.4

p.T17N

c.50C>A

1 paper

NM_000915.4

p.L6delFs

c.18delC

4 papers

NM_000915.4

p.A19T

c.55G>A

3 papers

NM_000915.4

p.A19V

c.56C>T

1 paper

NM_000915.4

p.Y21H

c.61T>C

1 paper

NM_000915.4

p.M1I

c.3G>A

1 paper

NM_000915.4

p.M1R

c.2T>G

1 paper

NM_000915.4

p.M1insFs

c.2dupT

1 paper

NM_000915.4

p.P26T

c.76C>A