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.F209S

c.626T>C

Surrounding Variants

1 paper

NM_001322466.2

p.F209L

c.625T>C

4 papers

NM_001322466.2

p.V211M

c.631G>A

1 paper

NM_001322466.2

p.D206delFs

c.616delG

1 paper

NM_001322466.2

p.D205G

c.614A>G

1 paper

NM_001322466.2

p.N215del1

c.643_645delAAC

10 papers

NM_001322466.2

p.R204G

c.610A>G

1 paper

NM_001322466.2

p.R204*

c.610A>T

1 paper

NM_001322466.2

p.Y214*

c.642C>A

1 paper

NM_001322466.2

p.Y214*

c.642C>G

1 paper

NM_001322466.2

p.F201_M202insFs

c.603_604insG

1 paper

NM_001322466.2

p.F201Y

c.602T>A

1 paper

NM_001322466.2

p.Q200R

c.599A>G