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.R164C

c.490C>T

Surrounding Variants

1 paper

NM_004468.5

p.A163T

c.487G>A

1 paper

NM_004468.5

p.C153Y

c.458G>A

1 paper

NM_004468.5

p.C153R

c.457T>C

1 paper

NM_004468.5

p.C150Y

c.449G>A

1 paper

NM_004468.5

p.C150R

c.448T>C

1 paper

NM_004468.5

p.P143S

c.427C>T

1 paper

NM_004468.5

p.P135insFs

c.403_404insC

1 paper

NM_004468.5

p.Q134R

c.401A>G

1 paper

NM_004468.5

p.C132F

c.395G>T

1 paper

NM_004468.5

p.C129S

c.386G>C

1 paper

NM_004468.5

p.F127_L128ins1

c.381_382insATC

1 paper

NM_004468.5

p.Q171*

c.511C>T