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

7 papers

NM_001449.5

p.C132F

c.395G>T

Surrounding Variants

1 paper

NM_001449.5

p.C132Y

c.395G>A

1 paper

NM_001449.5

p.C132R

c.394T>C

1 paper

NM_001159699.2

p.K149_Q150del1

c.446_448delAGC

1 paper

NM_001159699.2

p.N147K

c.441C>A

1 paper

NM_001159699.2

p.N147N

c.441C>T

1 paper

NM_001159699.2

p.K149insFs

c.447dupG

1 paper

NM_001449.5

p.Q134_I136delFs

c.402_406del5

1 paper

NM_001159699.2

p.Q150insFs

c.450dupA

1 paper

NM_001159699.2

p.Q150*

c.448C>T

1 paper

NM_001449.5

p.Q134fs

c.400_401fs

1 paper

NM_001159699.2

p.S146R

c.438T>A

1 paper

NM_001159699.2

p.S146R

c.438T>G