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

2 papers

NM_001449.5

p.K157delFs

c.469_470delAA

Surrounding Variants

3 papers

NM_001449.5

p.K157fs

c.469_470fs

1 paper

NM_001159699.2

p.T172N

c.515C>A

2 papers

NM_001159699.2

p.T172insFs

c.515dupC

NM_001159700.2

p.T156_K157insFs

c.468_469insC

1 paper

NM_001159699.2

p.E171insFs

c.512_513insTA

3 papers

NM_001159700.2

p.C153*

c.459C>A

1 paper

NM_001449.5

p.C153W

c.459C>G

NM_001159699.2

p.C169W

c.507C>G

5 papers

NM_001449.5

p.C153Y

c.458G>A

NM_001159699.2

p.C169Y

c.506G>A

1 paper

NM_001449.5

p.C153S

c.458G>C

NM_001159699.2

p.C169S

c.506G>C

1 paper

NM_001449.5

p.C153S

c.457T>A

NM_001159699.2

p.C169S

c.505T>A

4 papers

NM_001449.5

p.C153R

c.457T>C

NM_001159699.2

p.C169R

c.505T>C

1 paper

NM_001159699.2

p.C169fs

c.505_506fs

1 paper

NM_001159699.2

p.K176_H177delins

c.528_529delinsAA