Varaico: Literature-Extracted Genetic Variants

DPPA4

50 papers

RefSeq Summary

This gene encodes a nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus a...

Pfam Domains

Dppa2_Aaa 129–167UCSCDppa2/4 conserved region in higher vertebrates

Dppa2_Aaa 179–227UCSCDppa2/4 conserved region in higher vertebrates

DCRaa 227–294UCSCDppa2/4 conserved region

Gene Aliases

HGNC Name

developmental pluripotency associated 4

HGNC Alias Symbol

FLJ10713

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018189.4

p.T196T

c.588T>G

Surrounding Variants

1 paper

NM_018189.4

p.A198A

c.594C>T

2 papers

NM_018189.4

p.A207V

c.620C>T

1 paper

NM_018189.4

p.Q223L

c.668A>T

1 paper

NM_018189.4

p.G227Splc

c.679+7G>T

1 paper

NM_018189.4

p.K148I

c.443A>T

1 paper

NM_018189.4

p.K143N

c.429A>T

1 paper

NM_018189.4

p.K143N

c.429A>C

1 paper

NM_018189.4

p.R142Q

c.425G>A

1 paper

NM_018189.4

p.I141V

c.421A>G

1 paper

NM_018189.4

p.D131N

c.391G>A

1 paper

NM_018189.4

p.A125S

c.373G>T

1 paper

NM_018189.4

p.R120H

c.359G>A