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.G96D

c.287G>A

Surrounding Variants

2 papers

NM_000915.4

p.G96C

c.286G>T

1 paper

NM_000915.4

p.R97S

c.289C>A

1 paper

NM_000915.4

p.C98insFs

c.293_294insC

1 paper

NM_000915.4

p.C98*

c.294C>A

3 papers

NM_000915.4

p.G93G

c.279G>A

1 paper

NM_000915.4

p.A99E

c.296C>A

2 papers

NM_000915.4

p.C92*

c.276C>A

1 paper

NM_000915.4

p.G102D

c.305G>A

1 paper

NM_000915.4

p.Q89K

c.265C>A

1 paper

NM_000915.4

p.Q89E

c.265C>G

2 papers

NM_000915.4

p.C104G

c.310T>G

1 paper

NM_000915.4

p.D108H

c.322G>C