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

5 papers

NM_001318895.3

p.T171M

c.512C>T

Surrounding Variants

1 paper

NM_001318895.3

p.T171K

c.512C>A

2 papers

NM_001318895.3

p.T175P

c.523A>C

1 paper

NM_001318895.3

p.Y176F

c.527A>T

1 paper

NM_001318895.3

p.R177W

c.529C>T

2 papers

NM_001318895.3

p.Y176_R177delins

c.528_529delinsAA

9 papers

NM_001318895.3

p.R177Q

c.530G>A

3 papers

NM_001318895.3

p.V187L

c.559G>T

2 papers

NM_001318895.3

p.V187L

c.559G>C

2 papers

NM_001318895.3

p.V187M

c.559G>A

1 paper

NM_001318895.3

p.C191S

c.571T>A

1 paper

NM_001318895.3

p.C191S

c.572G>C

1 paper

NM_001318895.3

p.K193delins

c.578_579delinsAG