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

1 paper

NM_001322466.2

p.F264V

c.790T>G

Surrounding Variants

1 paper

NM_001322466.2

p.G263D

c.788G>A

1 paper

NM_001322466.2

p.K262_Q267delFs

c.786_801del16

1 paper

NM_001322466.2

p.G261S

c.781G>A

1 paper

NM_001322466.2

p.K269E

c.805A>G

1 paper

NM_001322466.2

p.E270A

c.809A>C

1 paper

NM_001322466.2

p.C273insFs

c.817dupT

1 paper

NM_001322466.2

p.K254Q

c.760A>C

1 paper

NM_001322466.2

p.G253R

c.757G>A

1 paper

NM_001322466.2

p.C276Y

c.827G>A

1 paper

NM_001322466.2

p.C276F

c.827G>T

1 paper

NM_001322466.2

p.N251S

c.752A>G

1 paper

NM_001322466.2

p.G279R

c.835G>A