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

9 papers

NM_001322466.2

p.S243R

c.727A>C

Surrounding Variants

9 papers

NM_001322466.2

p.S243R

c.729C>A

9 papers

NM_001322466.2

p.S243R

c.729C>G

2 papers

NM_001322466.2

p.H246Y

c.736C>T

1 paper

NM_001322466.2

p.C239insFs

c.715dupT

2 papers

NM_001322466.2

p.F237I

c.709T>A

1 paper

NM_001322466.2

p.N251S

c.752A>G

1 paper

NM_001322466.2

p.G234A

c.701G>C

1 paper

NM_001322466.2

p.G253R

c.757G>A

1 paper

NM_001322466.2

p.L232L

c.696C>T

1 paper

NM_001322466.2

p.L232P

c.695T>C

1 paper

NM_001322466.2

p.K254Q

c.760A>C

1 paper

NM_001322466.2

p.L232F

c.694C>T