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.K33N

c.99G>C

Surrounding Variants

1 paper

NM_001159699.2

p.K33R

c.98A>G

2 papers

NM_001159699.2

p.K38R

c.113A>G

1 paper

NM_001159699.2

p.D39_F48delFs

c.116_143del28

1 paper

NM_001159699.2

p.D39G

c.116A>G

1 paper

NM_001159699.2

p.H41N

c.121C>A

1 paper

NM_001159699.2

p.H41Q

c.123C>G

1 paper

NM_001159699.2

p.H24Q

c.72C>G

1 paper

NM_001159699.2

p.H42Q

c.126C>G

1 paper

NM_001159699.2

p.H42H

c.126C>T

1 paper

NM_001159699.2

p.C43F

c.128G>T

1 paper

NM_001159699.2

p.L45insFs

c.133dupC

1 paper

NM_001159699.2

p.L45P

c.134T>C