Varaico: Literature-Extracted Genetic Variants

FHL5

312 papers

RefSeq Summary

The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation func...

Pfam Domains

LIM_FHL2-3_Naa 7–34UCSCFHL2/3 N-terminal LIM domain

LIMaa 41–98UCSCLIM domain

LIMaa 102–159UCSCLIM domain

LIMaa 163–218UCSCLIM domain

LIMaa 222–279UCSCLIM domain

Gene Aliases

HGNC Name

four and a half LIM domains 5

HGNC Alias Symbols

FLJ33049; ACT; dJ393D12.2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001322466.2

p.G17G

c.51G>T

Surrounding Variants

1 paper

NM_001322466.2

p.G17W

c.49G>T

1 paper

NM_001322466.2

p.K19E

c.55A>G

2 papers

NM_001322466.2

p.L16I

c.46C>A

1 paper

NM_001322466.2

p.L16V

c.46C>G

1 paper

NM_001322466.2

p.L15L

c.45T>C

1 paper

NM_001322466.2

p.Y20F

c.59A>T

1 paper

NM_001322466.2

p.V21insFs

c.63dupA

1 paper

NM_001322466.2

p.L22fs

c.64_65fs

2 papers

NM_001322466.2

p.K23delFs

c.68_69delAG

1 paper

NM_001322466.2

p.T12I

c.35C>T

1 paper

NM_001322466.2

p.F6F

c.18T>C

1 paper

NM_001322466.2

p.C29R

c.85T>C