Varaico: Literature-Extracted Genetic Variants

Gene:ZCCHC12

ZCCHC12

23 papers

RefSeq Summary

This gene encodes a downstream effector of bone morphogenetic protein (BMP) signalling. This protein contains a zinc finger domain and functions as a transcriptional coactivator. Variation in this gen...

Pfam Domains

PNMAaa 48–213UCSCPNMA

Gene Aliases

HGNC Name

zinc finger CCHC-type containing 12

HGNC Alias Symbols

FLJ16123; SIZN; SIZN1; PNMA7A

Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
2 papers
NM_173798.4
p.R7C
c.19C>T
2 papers
NM_173798.4
p.T344I
c.1031C>T
1 paper
NM_173798.4
p.R12Q
c.35G>A
1 paper
NM_173798.4
p.M25_L26delFs
c.73_76del4
1 paper
NM_173798.4
p.M25_L26delFs
c.73_77del5
1 paper
NM_173798.4
p.G57E
c.170G>A
1 paper
NM_173798.4
p.N63D
c.187A>G
1 paper
NM_173798.4
p.N69S
c.206A>G
1 paper
NM_173798.4
p.F134Y
c.401T>A
1 paper
NM_173798.4
p.R151S
c.451C>A
1 paper
NM_173798.4
p.L196F
c.586C>T
1 paper
NM_173798.4
p.F209S
c.626T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."