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

2 papers

NM_001318895.3

p.C209R

c.625T>C

Surrounding Variants

1 paper

NM_001318895.3

p.C209Y

c.626G>A

1 paper

NM_001318895.3

p.Y208H

c.622T>C

1 paper

NM_001318895.3

p.C212R

c.634T>C

1 paper

NM_001318895.3

p.D205G

c.614A>G

1 paper

NM_001318895.3

p.Y217F

c.650A>T

1 paper

NM_001318895.3

p.R199S

c.595C>A

1 paper

NM_001318895.3

p.K219T

c.656A>C

1 paper

NM_001318895.3

p.K193delins

c.578_579delinsAG

1 paper

NM_001318895.3

p.C224Y

c.671G>A

1 paper

NM_001318895.3

p.C224W

c.672C>G

1 paper

NM_001318895.3

p.C191S

c.572G>C

2 papers

NM_001318895.3

p.N226N

c.678C>T