Varaico: Literature-Extracted Genetic Variants

Gene:ZMAT1

ZMAT1

11 papers

RefSeq Summary

This gene encodes a protein containing Cys2-His2 (C2H2)-type zinc fingers, which are similar to those found in the nuclear matrix protein matrin 3. Alternatively spliced transcript variants have been ...

Pfam Domains

zf-metaa 56–80UCSCZinc-finger of C2H2 type
zf-metaa 121–145UCSCZinc-finger of C2H2 type
zf-metaa 175–199UCSCZinc-finger of C2H2 type

Gene Aliases

HGNC Name

zinc finger matrin-type 1

HGNC Alias Symbol

KIAA1789

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_001394560.1
p.V8Fs
c.22delinsCAFs
1 paper
NM_001394560.1
p.A99T
c.295G>A
1 paper
NM_001394560.1
p.E135V
c.404A>T
1 paper
NM_001394560.1
p.H148Q
c.444T>A
1 paper
NM_001394560.1
p.K301R
c.902A>G
1 paper
NM_001394560.1
p.R313S
c.939A>T
1 paper
NM_001394560.1
p.Q522Q
c.1566G>A
1 paper
NM_001394560.1
p.E571V
c.1712A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."