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_001159704.1

p.K254R

c.761A>G

Surrounding Variants

4 papers

NM_001159700.2

p.C255S

c.763T>A

NM_001449.5

p.C271S

c.811T>A

5 papers

NM_001159702.3

p.A322P

c.964G>C

NM_001159700.2

p.C255S

c.764G>C

NM_001449.5

p.C271S

c.812G>C

1 paper

NM_001159699.2

p.S272P

c.814T>C

4 papers

NM_001159699.2

p.V273insFs

c.817dupG

1 paper

NM_001159702.3

p.P323L

c.968C>T

1 paper

NM_001159699.2

p.C268R

c.802T>C

1 paper

NM_001159699.2

p.H267R

c.800A>G

1 paper

NM_001159699.2

p.H267fs

c.799_800fs

1 paper

NM_001159699.2

p.H267delFs

c.799delC

1 paper

NM_001159699.2

p.H262_H267delFs

c.786_801del16

2 papers

NM_001449.5

p.H246Y

c.736C>T

1 paper

NM_001159699.2

p.R279H

c.836G>A