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.V30V

c.90T>G

Surrounding Variants

1 paper

NM_001322466.2

p.V30A

c.89T>C

1 paper

NM_001322466.2

p.V30I

c.88G>A

1 paper

NM_001322466.2

p.C29R

c.85T>C

1 paper

NM_001322466.2

p.C32W

c.96T>G

1 paper

NM_001322466.2

p.Y33F

c.98A>T

2 papers

NM_001322466.2

p.R35C

c.103C>T

3 papers

NM_001322466.2

p.R35H

c.104G>A

1 paper

NM_001322466.2

p.F37_S38delFs

c.109_112del4

1 paper

NM_001322466.2

p.F37fs

c.109_110fs

2 papers

NM_001322466.2

p.K23delFs

c.68_69delAG

1 paper

NM_001322466.2

p.L22fs

c.64_65fs

1 paper

NM_001322466.2

p.N39K

c.117C>A