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

1–12 of 313 variants

8 papers

NM_001159699.2

p.Y224*

c.672C>G

6 papers

NM_001159699.2

p.A123A

c.369C>G

6 papers

NM_001449.5

p.W122S

c.365G>C

6 papers

NM_001449.5

p.C132F

c.395G>T

6 papers

NM_001449.5

p.C224W

c.672C>G

5 papers

NM_001159699.2

p.M17delFs

c.50delT

5 papers

NM_001159699.2

p.G153E

c.458G>A

4 papers

NM_001159699.2

p.A123A

c.369C>A

4 papers

NM_001449.5

p.H123Y

c.367C>T

4 papers

NM_001449.5

p.C153R

c.457T>C

4 papers

NM_001449.5

p.C153Y

c.458G>A

4 papers

NM_001159699.2

p.V273insFs

c.817dupG