Varaico: Literature-Extracted Genetic Variants

FHL1

198 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

Gene Aliases

HGNC Name

four and a half LIM domains 1

HGNC Alias Symbols

SLIM1; KYO-T; bA535K18.1; FHL1B; XMPMA; FLH1A; MGC111107

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001159702.3

p.G230Splc

c.688+1G>T

Surrounding Variants

3 papers

NM_001159702.3

p.G230Splc

c.688+1G>A

1 paper

NM_001159699.2

p.T245A

c.733A>G

1 paper

NM_001159699.2

p.K241E

c.721A>G

8 papers

NM_001449.5

p.C224W

c.672C>G

1 paper

NM_001159699.2

p.K236_K241del0

c.706_723del18

1 paper

NM_001159700.2

p.G230Splc

c.688+37G>A

1 paper

NM_001159699.2

p.N231S

c.692A>G

1 paper

NM_001159699.2

p.K230K

c.690G>A

1 paper

NM_001159699.2

p.D227N

c.679G>A

1 paper

NM_001449.5

p.D211fs

c.631_632fs

1 paper

NM_001159699.2

p.C225Y

c.674G>A

5 papers

NM_001159699.2

p.C225R

c.673T>C

NM_001159700.2

p.C209R

c.625T>C