Varaico: Literature-Extracted Genetic Variants

Gene:CHIC1

CHIC1

19 papers

RefSeq Summary

This gene encodes a cysteine-rich hydrophobic (CHIC) domain-containing protein, and is one of the few protein-coding genes found near the X-inactivation center. Studies in mouse indicate that the mous...

Pfam Domains

Erf4aa 98–200UCSCGolgin subfamily A member 7/ERF4 family

Gene Aliases

HGNC Name

cysteine rich hydrophobic domain 1

HGNC Alias Symbol

BRX

Papers
RefSeq ID
Protein change
DNA change
3 papers
NM_001039840.4
p.R129H
c.386G>A
1 paper
NM_001039840.4
p.M1I
c.3G>C
1 paper
NM_001039840.4
p.S33P
c.97T>C
1 paper
NM_001039840.4
p.E55G
c.164A>G
1 paper
NM_001039840.4
p.A69delins
c.205_206delinsAT
1 paper
NM_001039840.4
p.R74P
c.221G>C
1 paper
NM_001039840.4
p.P86L
c.257C>T
1 paper
NM_001039840.4
p.V99Splc
c.297-43G>T
1 paper
NM_001039840.4
p.P111S
c.331C>T
1 paper
NM_001039840.4
p.K117_V118Splc
c.351+28C>T
1 paper
NM_001039840.4
p.R129C
c.385C>T
1 paper
NM_001039840.4
p.W161L
c.482G>T
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