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

2 papers

NM_001318895.3

p.H123Q

c.369T>A

Surrounding Variants

2 papers

NM_001318895.3

p.H123Q

c.369T>G

1 paper

NM_001318895.3

p.H123L

c.368A>T

1 paper

NM_001318895.3

p.H123Y

c.367C>T

1 paper

NM_001318895.3

p.S121_W122delFs

c.361_365del5

2 papers

NM_001318895.3

p.W122S

c.365G>C

1 paper

NM_001318895.3

p.T125N

c.374C>A

1 paper

NM_001318895.3

p.C126insFs

c.377_378dupGC

1 paper

NM_001318895.3

p.F127_I128ins1

c.381_382insATC

1 paper

NM_001318895.3

p.F127fs

c.379_380fs

1 paper

NM_001318895.3

p.Y117_G119delins

c.350_356delinsATGC

1 paper

NM_001318895.3

p.I128V

c.382A>G

4 papers

NM_001318895.3

p.C129S

c.386G>C