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.L258V

c.772C>G

Surrounding Variants

1 paper

NM_004468.5

p.C254delFs

c.762delG

2 papers

NM_004468.5

p.D268N

c.802G>A

1 paper

NM_004468.5

p.G262_G267delFs

c.786_801del16

1 paper

NM_004468.5

p.H246Y

c.736C>T

1 paper

NM_004468.5

p.L271P

c.812T>C

1 paper

NM_004468.5

p.Q273*

c.817C>T

1 paper

NM_004468.5

p.Q273insFs

c.817dupC

1 paper

NM_004468.5

p.D241_R242del1

c.723_725delCGG

1 paper

NM_004468.5

p.R242G

c.724C>G

1 paper

NM_004468.5

p.S276N

c.827G>A

1 paper

NM_004468.5

p.G279R

c.835G>A

1 paper

NM_004468.5

p.G279E

c.836G>A