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

2 papers

NM_004468.5

p.A103T

c.307G>A

Surrounding Variants

1 paper

NM_004468.5

p.C104R

c.310T>C

1 paper

NM_004468.5

p.C101F

c.302G>T

1 paper

NM_004468.5

p.E106fs

c.316_317fs

1 paper

NM_004468.5

p.S99L

c.296C>T

1 paper

NM_004468.5

p.E106_T107delFs

c.318_319delTC

1 paper

NM_004468.5

p.S95_A96delFs

c.284_287del4

2 papers

NM_004468.5

p.A96V

c.287C>T

3 papers

NM_004468.5

p.G111Splc

c.331+7G>C

3 papers

NM_004468.5

p.Q83*

c.247C>T

1 paper

NM_004468.5

p.E78delFs

c.234delT

1 paper

NM_004468.5

p.R73P

c.218G>C

1 paper

NM_004468.5

p.Q72Q

c.216G>A