Varaico: Literature-Extracted Genetic Variants

Gene:CSRP3
Variant:p.R122*

CSRP3

253 papers

RefSeq Summary

This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger m...

Pfam Domains

LIMaa 10–66UCSCLIM domain
LIMaa 120–176UCSCLIM domain

Gene Aliases

HGNC Name

cysteine and glycine rich protein 3

HGNC Alias Symbols

MLP; CMD1M

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
8 papers
NM_003476.5
p.R122*
c.364C>T
Surrounding Variants
1 paper
NM_003476.5
p.R122P
c.365G>C
7 papers
NM_003476.5
p.R122Q
c.365G>A
3 papers
NM_003476.5
p.P121L
c.362C>T
1 paper
NM_003476.5
p.C123R
c.367T>C
1 paper
NM_003476.5
p.P121S
c.361C>T
6 papers
NM_003476.5
p.C123*
c.369T>A
1 paper
NM_003476.5
p.C120R
c.358T>C
1 paper
NM_003476.5
p.K125*
c.373A>T
1 paper
NM_003476.5
p.K125Q
c.373A>C
2 papers
NM_003476.5
p.E118E
c.354G>A
1 paper
NM_003476.5
p.E118K
c.352G>A
2 papers
NM_003476.5
p.S126L
c.377C>T
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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."