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.S230N

c.689G>A

Surrounding Variants

1 paper

NM_001322466.2

p.K227insFs

c.680dupA

1 paper

NM_001322466.2

p.S226F

c.677C>T

1 paper

NM_001322466.2

p.S226A

c.676T>G

1 paper

NM_001322466.2

p.A224A

c.672C>G

1 paper

NM_001322466.2

p.A224V

c.671C>T

1 paper

NM_001322466.2

p.V223V

c.669A>G

1 paper

NM_001322466.2

p.C222Y

c.665G>A

1 paper

NM_001322466.2

p.C222S

c.665G>C

1 paper

NM_001322466.2

p.C222S

c.664T>A

2 papers

NM_001322466.2

p.A219A

c.657C>A

1 paper

NM_001322466.2

p.Y214*

c.642C>A

1 paper

NM_001322466.2

p.Y214*

c.642C>G