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

1–12 of 42 variants

4 papers

NM_018189.4

p.I55V

c.163A>G

2 papers

NM_018189.4

p.M1T

c.2T>C

2 papers

NM_018189.4

p.A207V

c.620C>T

1 paper

NM_018189.4

p.W19*

c.56G>A

1 paper

NM_018189.4

p.W19*

c.57G>A

1 paper

NM_018189.4

p.K24M

c.71A>T

1 paper

NM_018189.4

p.Q31K

c.91C>A

1 paper

NM_018189.4

p.R48G

c.142A>G

1 paper

NM_018189.4

p.E51Q

c.151G>C

1 paper

NM_018189.4

p.I55F

c.163A>T

1 paper

NM_018189.4

p.C62F

c.185G>T

1 paper

NM_018189.4

p.I79M

c.237A>G