Varaico: Literature-Extracted Genetic Variants

FHL3

76 papers

RefSeq Summary

The protein encoded by this gene is a member of a family of proteins containing a four-and-a-half LIM domain, which is a highly conserved double zinc finger motif. The encoded protein has been shown t...

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 221–279UCSCLIM domain

Gene Aliases

HGNC Name

four and a half LIM domains 3

HGNC Alias Symbol

SLIM2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004468.5

p.S222R

c.666C>A

Surrounding Variants

1 paper

NM_004468.5

p.C224W

c.672C>G

1 paper

NM_004468.5

p.R226H

c.677G>A

1 paper

NM_004468.5

p.G230*

c.688G>T

1 paper

NM_004468.5

p.A211V

c.632C>T

1 paper

NM_004468.5

p.C209delFs

c.627delA

1 paper

NM_004468.5

p.C209R

c.625T>C

1 paper

NM_004468.5

p.E205G

c.614A>G

3 papers

NM_004468.5

p.P180P

c.540G>A

3 papers

NM_004468.5

p.R177H

c.530G>A

1 paper

NM_004468.5

p.Y176_R177delins

c.528_529delinsAA

1 paper

NM_004468.5

p.G232S

c.694G>A

1 paper

NM_004468.5

p.G232D

c.695G>A