Varaico: Literature-Extracted Genetic Variants

EPPIN

13 papers

RefSeq Summary

This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chr...

Pfam Domains

WAPaa 29–72UCSCWAP-type (Whey Acidic Protein) 'four-disulfide core'

Kunitz_BPTIaa 76–128UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

Gene Aliases

HGNC Name

epididymal peptidase inhibitor

HGNC Previous Symbol

SPINLW1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020398.4

p.L24P

c.71T>C

Surrounding Variants

2 papers

NM_020398.4

p.Q20E

c.58C>G

1 paper

NM_020398.4

p.A17V

c.50C>T

1 paper

NM_020398.4

p.L10L

c.28C>T

1 paper

NM_020398.4

p.M1insFs

c.2dupT

1 paper

NM_020398.4

p.R31Splc

c.92-438C>T

1 paper

NM_020398.4

p.P34P

c.102C>A

1 paper

NM_020398.4

p.E41K

c.121G>A

1 paper

NM_020398.4

p.C40_E41delFs

c.120_121delCA

1 paper

NM_020398.4

p.Q43K

c.127C>A

1 paper

NM_020398.4

p.R52S

c.156A>C

1 paper

NM_020398.4

p.K68fs

c.202_203fs

1 paper

NM_020398.4

p.K68delFs

c.204delT