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.K79K

c.237G>A

Surrounding Variants

1 paper

NM_001322466.2

p.K79T

c.236A>C

1 paper

NM_001322466.2

p.P80S

c.238C>T

1 paper

NM_001322466.2

p.E78V

c.233A>T

1 paper

NM_001322466.2

p.L76L

c.226T>C

1 paper

NM_001322466.2

p.A83A

c.249C>T

1 paper

NM_001322466.2

p.D85N

c.253G>A

1 paper

NM_001322466.2

p.N73K

c.219T>A

1 paper

NM_001322466.2

p.D85E

c.255T>G

1 paper

NM_001322466.2

p.N73D

c.217A>G

1 paper

NM_001322466.2

p.E86E

c.258G>A

1 paper

NM_001322466.2

p.R87H

c.260G>A

1 paper

NM_001322466.2

p.C69delFs

c.207delC