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.W122C

c.366G>C

NM_001159699.2

p.W138C

c.414G>C

Surrounding Variants

1 paper

NM_001159702.3

p.W122*

c.366G>A

2 papers

NM_001449.5

p.W122C

c.366G>T

NM_001159699.2

p.W138C

c.414G>T

1 paper

NM_001159699.2

p.H139D

c.415C>G

5 papers

NM_001449.5

p.H123Y

c.367C>T

1 paper

NM_001159702.3

p.W122*

c.365G>A

7 papers

NM_001449.5

p.W122S

c.365G>C

2 papers

NM_001159702.3

p.H123R

c.368A>G

1 paper

NM_001159700.2

p.K124delFs

c.371_372delAA

2 papers

NM_001159700.2

p.K124fs

c.370_371fs

1 paper

NM_001159699.2

p.C142_F143ins0

c.425_427dupGCT

1 paper

NM_001449.5

p.G119V

c.356G>T

1 paper

NM_001449.5

p.C126S

c.376T>A