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.K294T

c.881A>C

Surrounding Variants

5 papers

NM_001159700.2

p.C276Y

c.827G>A

4 papers

NM_001159700.2

p.C276S

c.827G>C

1 paper

NM_001159699.2

p.L296L

c.888G>A

4 papers

NM_001159700.2

p.C276S

c.826T>A

3 papers

NM_001159700.2

p.*281E

c.841T>G

3 papers

NM_001159700.2

p.D275N

c.823G>A

NM_001159699.2

p.D291N

c.871G>A

2 papers

NM_001159700.2

p.C273fs

c.817_818fs

1 paper

NM_001159700.2

p.C273insFs

c.817dupT

1 paper

NM_001159699.2

p.V287M

c.859G>A

1 paper

NM_001449.5

p.V271fs

c.811_812fs

1 paper

NM_001449.5

p.Q270delFs

c.810delA

1 paper

NM_001449.5

p.Q268*

c.802C>T