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

5 papers

NM_001159699.2

p.M17delFs

c.50delT

Surrounding Variants

1 paper

NM_001159699.2

p.E19_D28delFs

c.55_83del29

1 paper

NM_001159699.2

p.E19*

c.55G>T

1 paper

NM_001159699.2

p.V14insFs

c.41dupT

2 papers

NM_001159699.2

p.K20M

c.59A>T

1 paper

NM_001159699.2

p.F21I

c.61T>A

1 paper

NM_001159699.2

p.F21Y

c.62T>A

1 paper

NM_001159699.2

p.F21L

c.63T>A

1 paper

NM_001159699.2

p.S10C

c.29C>G

1 paper

NM_001159699.2

p.H24Q

c.72C>G

1 paper

NM_001159699.2

p.P9insFs

c.25dupC

1 paper

NM_001159699.2

p.K33R

c.98A>G

1 paper

NM_001159699.2

p.K33N

c.99G>C