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.D179N

c.535G>A

Surrounding Variants

1 paper

NM_001322466.2

p.L181I

c.541C>A

1 paper

NM_001322466.2

p.T176_F177delins

c.528_529delinsAA

1 paper

NM_001322466.2

p.T176P

c.526A>C

1 paper

NM_001322466.2

p.G173del1

c.517_518delGGT

1 paper

NM_001322466.2

p.T171N

c.512C>A

1 paper

NM_001322466.2

p.I170T

c.509T>C

1 paper

NM_001322466.2

p.C189Y

c.566G>A

1 paper

NM_001322466.2

p.K168_V169Splc

c.505-1G>C

1 paper

NM_001322466.2

p.G191delFs

c.573delC

1 paper

NM_001322466.2

p.C192_D205del14

c.574_614del42

1 paper

NM_001322466.2

p.C192S

c.574T>A

1 paper

NM_001322466.2

p.C192S

c.575G>C