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.L54M

c.160C>A

Surrounding Variants

1 paper

NM_004468.5

p.L54L

c.160C>T

3 papers

NM_004468.5

p.R59H

c.176G>A

1 paper

NM_004468.5

p.H62_C65delFs

c.185_195del11

1 paper

NM_004468.5

p.C69Y

c.206G>A

2 papers

NM_004468.5

p.C69delFs

c.207delG

1 paper

NM_004468.5

p.Q72delFs

c.214delG

1 paper

NM_004468.5

p.Q72Q

c.216G>A

1 paper

NM_004468.5

p.R73P

c.218G>C

1 paper

NM_004468.5

p.E78delFs

c.234delT

3 papers

NM_004468.5

p.Q83*

c.247C>T

1 paper

NM_004468.5

p.D50N

c.148G>A

1 paper

NM_004468.5

p.G48R

c.142G>C