Varaico: Literature-Extracted Genetic Variants

Gene:CHIC2
Variant:p.M1Fs

CHIC2

23 papers

RefSeq Summary

This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This...

Pfam Domains

Erf4aa 39–141UCSCGolgin subfamily A member 7/ERF4 family

Gene Aliases

HGNC Name

cysteine rich hydrophobic domain 2

HGNC Alias Symbol

BTL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012110.4
p.M1Fs
c.1delinsTGTFs
Surrounding Variants
1 paper
NM_012110.4
p.M1_A2insFs
c.3_4insA
1 paper
NM_012110.4
p.D5H
c.13G>C
1 paper
NM_012110.4
p.I7F
c.19A>T
1 paper
NM_012110.4
p.Y8insFs
c.23dupA
1 paper
NM_012110.4
p.E12D
c.36G>T
1 paper
NM_012110.4
p.E12D
c.36G>C
1 paper
NM_012110.4
p.R16G
c.46C>G
1 paper
NM_012110.4
p.V30M
c.88G>A
1 paper
NM_012110.4
p.H37P
c.110A>C
1 paper
NM_012110.4
p.V40Splc
c.119+44T>C
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