Varaico: Literature-Extracted Genetic Variants

Gene:ZCCHC12
Variant:p.V277M

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
Selected Variant
1 paper
NM_173798.4
p.V277M
c.829G>A
Surrounding Variants
1 paper
NM_173798.4
p.D276A
c.827A>C
1 paper
NM_173798.4
p.L279L
c.837G>A
1 paper
NM_173798.4
p.P293S
c.877C>T
1 paper
NM_173798.4
p.H312insFs
c.934dupC
1 paper
NM_173798.4
p.H312fs
c.934_935fs
1 paper
NM_173798.4
p.R241T
c.722G>C
1 paper
NM_173798.4
p.R315G
c.943A>G
1 paper
NM_173798.4
p.F318Y
c.953T>A
1 paper
NM_173798.4
p.W222L
c.665G>T
1 paper
NM_173798.4
p.R341*
c.1021C>T
2 papers
NM_173798.4
p.T344I
c.1031C>T
1 paper
NM_173798.4
p.F209S
c.626T>C
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