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

5 papers

NM_001159702.3

p.C150R

c.448T>C

Surrounding Variants

1 paper

NM_001159700.2

p.C150S

c.448T>A

1 paper

NM_001449.5

p.V151_C153del0

c.451_459del9

2 papers

NM_001449.5

p.C150Y

c.449G>A

1 paper

NM_001159700.2

p.C150S

c.449G>C

1 paper

NM_001159699.2

p.V167M

c.499G>A

1 paper

NM_001449.5

p.Y149_C150del1

c.446_448delACT

2 papers

NM_001449.5

p.D147D

c.441C>T

1 paper

NM_001159699.2

p.D163H

c.487G>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

5 papers

NM_001449.5

p.C153Y

c.458G>A

NM_001159699.2

p.C169Y

c.506G>A