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_001159699.2

p.D128Y

c.382G>T

Surrounding Variants

1 paper

NM_001159700.2

p.D112fs

c.334_335fs

3 papers

NM_001159699.2

p.G127_D128ins1

c.381_382insATC

1 paper

NM_001159699.2

p.G127E

c.380G>A

1 paper

NM_001159699.2

p.G127Splc

c.380-2A>G

1 paper

NM_001159699.2

p.E132K

c.394G>A

1 paper

NM_001159699.2

p.E132*

c.394G>T

1 paper

NM_001159699.2

p.K134ins1

c.401_402insGAC

1 paper

NM_001159699.2

p.G135insFs

c.403_404insC

1 paper

NM_001449.5

p.G119V

c.356G>T

1 paper

NM_001159702.3

p.W122*

c.365G>A

7 papers

NM_001449.5

p.W122S

c.365G>C

1 paper

NM_001159702.3

p.W122*

c.366G>A