Varaico: Literature-Extracted Genetic Variants

FHL2

138 papers

RefSeq Summary

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines bind...

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 221–278UCSCLIM domain

Gene Aliases

HGNC Name

four and a half LIM domains 2

HGNC Alias Symbols

SLIM3; DRAL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001318895.3

p.Y117_G119delins

c.350_356delinsATGC

Surrounding Variants

2 papers

NM_001318895.3

p.W122S

c.365G>C

1 paper

NM_001318895.3

p.S121_W122delFs

c.361_365del5

1 paper

NM_001318895.3

p.H123Y

c.367C>T

1 paper

NM_001318895.3

p.H123L

c.368A>T

2 papers

NM_001318895.3

p.H123Q

c.369T>G

2 papers

NM_001318895.3

p.H123Q

c.369T>A

1 paper

NM_001318895.3

p.R113L

c.338G>T

1 paper

NM_001318895.3

p.R113H

c.338G>A

1 paper

NM_001318895.3

p.T125N

c.374C>A

3 papers

NM_001318895.3

p.R113C

c.337C>T

1 paper

NM_001318895.3

p.R113S

c.337C>A

1 paper

NM_001318895.3

p.C126insFs

c.377_378dupGC