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

1–12 of 55 variants

4 papers

NM_000915.4

p.A19T

c.55G>A

3 papers

NM_000915.4

p.A19V

c.56C>T

3 papers

NM_000915.4

p.P26L

c.77C>T

3 papers

NM_000915.4

p.G93G

c.279G>A

2 papers

NM_000915.4

p.S18del1

c.52_53delTCC

2 papers

NM_000915.4

p.G54R

c.160G>A

2 papers

NM_000915.4

p.G54R

c.160G>C

2 papers

NM_000915.4

p.V67A

c.200T>C

2 papers

NM_000915.4

p.E78del1

c.232_233delGAG

2 papers

NM_000915.4

p.E78G

c.233A>G

2 papers

NM_000915.4

p.C92*

c.276C>A

2 papers

NM_000915.4

p.G96C

c.286G>T