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.Y72F

c.215A>T

Surrounding Variants

1 paper

NM_001159699.2

p.N74K

c.222C>A

1 paper

NM_001159699.2

p.N74K

c.222C>G

1 paper

NM_001449.5

p.K52_E53Splc

c.157-1G>A

2 papers

NM_001159699.2

p.W77delins

c.229delinsG

1 paper

NM_001159699.2

p.W77*

c.230G>A

1 paper

NM_001159699.2

p.D79N

c.235G>A

1 paper

NM_001159699.2

p.F82Y

c.245T>A

2 papers

NM_001159699.2

p.R83C

c.247C>T

1 paper

NM_001159699.2

p.A85T

c.253G>A

1 paper

NM_001159699.2

p.C87*

c.261C>A

1 paper

NM_001159699.2

p.H89Y

c.265C>T

1 paper

NM_001159699.2

p.H89Q

c.267C>A