Varaico: Literature-Extracted Genetic Variants

FHL2

138 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

LIMaa 221–278UCSCLIM domain

Gene Aliases

HGNC Name

four and a half LIM domains 2

HGNC Alias Symbols

SLIM3; DRAL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001318895.3

p.Q157K

c.469C>A

Surrounding Variants

1 paper

NM_001318895.3

p.K156I

c.467A>T

1 paper

NM_001318895.3

p.Y154Y

c.462T>C

1 paper

NM_001318895.3

p.A159G

c.476C>G

1 paper

NM_001318895.3

p.C153Y

c.458G>A

1 paper

NM_001318895.3

p.C153R

c.457T>C

1 paper

NM_001318895.3

p.C150C

c.450T>C

1 paper

NM_001318895.3

p.C150Y

c.449G>A

1 paper

NM_001318895.3

p.C150R

c.448T>C

3 papers

NM_001318895.3

p.Q164*

c.490C>T

1 paper

NM_001318895.3

p.Q164L

c.491A>T

1 paper

NM_001318895.3

p.F149V

c.445T>G

1 paper

NM_001318895.3

p.K167_P168Splc

c.501+1G>T