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.K167_A168Splc

c.502-2A>G

Surrounding Variants

2 papers

NM_001159702.3

p.K167_A168Splc

c.502-2A>T

1 paper

NM_001159700.2

p.A168fs

c.502_503fs

1 paper

NM_001449.5

p.I169M

c.507C>G

1 paper

NM_001159699.2

p.G188A

c.563G>C

1 paper

NM_001159699.2

p.G188V

c.563G>T

1 paper

NM_001159699.2

p.G189delins

c.566_567delinsCC

1 paper

NM_001159699.2

p.P196_A199del0

c.588_596del9

3 papers

NM_001159699.2

p.W197*

c.590G>A

1 paper

NM_001159699.2

p.H198Y

c.592C>T

1 paper

NM_001159699.2

p.D200_C204del0

c.598_612del15

3 papers

NM_001159699.2

p.D200insFs

c.599_600insT

1 paper

NM_001159699.2

p.C201_C204delFs

c.601_611del11