Varaico: Literature-Extracted Genetic Variants

ELSPBP1

76 papers

RefSeq Summary

The protein encoded by this gene belongs to the sperm-coating protein family of epididymal origin. This protein and its canine homolog are the first known examples of proteins with four tandemly arran...

Pfam Domains

fn2aa 29–66UCSCFibronectin type II domain

fn2aa 74–115UCSCFibronectin type II domain

fn2aa 129–168UCSCFibronectin type II domain

fn2aa 182–223UCSCFibronectin type II domain

Gene Aliases

HGNC Name

epididymal sperm binding protein 1

HGNC Alias Symbols

HE12; E12; EDDM12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022142.5

p.Y17H

c.49T>C

Surrounding Variants

1 paper

NM_022142.5

p.Y17S

c.50A>C

1 paper

NM_022142.5

p.S18P

c.52T>C

1 paper

NM_022142.5

p.S18delFs

c.53delC

1 paper

NM_022142.5

p.L15_L16insFs

c.45_46insT

1 paper

NM_022142.5

p.T12P

c.34A>C

1 paper

NM_022142.5

p.G24W

c.70G>T

1 paper

NM_022142.5

p.M1L

c.1A>C

1 paper

NM_022142.5

p.M1L

c.1A>T

1 paper

NM_022142.5

p.E28K

c.82G>A

1 paper

NM_022142.5

p.C29Y

c.86G>A

2 papers

NM_022142.5

p.P32S

c.94C>T

1 paper

NM_022142.5

p.T44T

c.132C>T