Varaico: Literature-Extracted Genetic Variants

Gene:FHL2
Variant:p.L14H

FHL2

138 papers

RefSeq Summary

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines bind...

Pfam Domains

LIM_FHL2-3_Naa 6–33UCSCFHL2/3 N-terminal LIM domain
LIMaa 40–97UCSCLIM domain
LIMaa 101–158UCSCLIM domain
LIMaa 162–217UCSCLIM domain
LIMaa 221–278UCSCLIM domain

Gene Aliases

HGNC Name

four and a half LIM domains 2

HGNC Alias Symbols

SLIM3; DRAL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001318895.3
p.L14H
c.41T>A
Surrounding Variants
1 paper
NM_001318895.3
p.L21Q
c.62T>A
1 paper
NM_001318895.3
p.R22P
c.65G>C
2 papers
NM_001318895.3
p.R4H
c.11G>A
5 papers
NM_001318895.3
p.R4C
c.10C>T
1 paper
NM_001318895.3
p.S25N
c.74G>A
1 paper
NM_001318895.3
p.T2insFs
c.4dupA
1 paper
NM_001318895.3
p.M1I
c.3G>T
1 paper
NM_001318895.3
p.M1I
c.3G>C
2 papers
NM_001318895.3
p.M1I
c.3G>A
2 papers
NM_001318895.3
p.M1T
c.2T>C
1 paper
NM_001318895.3
p.M1L
c.1A>T
4 papers
NM_001318895.3
p.M1V
c.1A>G
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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."