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.V203M

c.607G>A

Surrounding Variants

1 paper

NM_001159699.2

p.F202S

c.605T>C

1 paper

NM_001159699.2

p.V203_S208del6

c.607_623del18

1 paper

NM_001159699.2

p.F202_V203ins0

c.605_607dupTTG

1 paper

NM_001159699.2

p.C204Y

c.611G>A

1 paper

NM_001159699.2

p.V205insFs

c.613_614insG

1 paper

NM_001159699.2

p.V205delFs

c.613delG

1 paper

NM_001159699.2

p.C201_C204delFs

c.601_611del11

3 papers

NM_001159699.2

p.D200insFs

c.599_600insT

1 paper

NM_001159699.2

p.D200_C204del0

c.598_612del15

1 paper

NM_001159699.2

p.H198Y

c.592C>T

1 paper

NM_001159699.2

p.S208insFs

c.623dupC

3 papers

NM_001159699.2

p.W197*

c.590G>A