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_001159699.2

p.G119W

c.355G>T

Surrounding Variants

1 paper

NM_001159699.2

p.G119R

c.355G>A

1 paper

NM_001159699.2

p.G119R

c.355G>C

1 paper

NM_001159699.2

p.G119E

c.356G>A

1 paper

NM_001159699.2

p.K118*

c.352A>T

3 papers

NM_001449.5

p.C104R

c.310T>C

1 paper

NM_001449.5

p.C104Y

c.311G>A

2 papers

NM_001449.5

p.C101F

c.302G>T

1 paper

NM_001159699.2

p.C117_G119delins

c.350_356delinsATGC

1 paper

NM_001449.5

p.K102_C104del0

c.304_312del9

1 paper

NM_001159699.2

p.K122N

c.366G>C

1 paper

NM_001159699.2

p.P115S

c.343C>T

1 paper

NM_001159699.2

p.A123T

c.367G>A