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.E42Q

c.124G>C

Surrounding Variants

1 paper

NM_001322466.2

p.E42V

c.125A>T

1 paper

NM_001322466.2

p.Y40*

c.120T>A

1 paper

NM_001322466.2

p.C44fs

c.130_131fs

1 paper

NM_001322466.2

p.N39K

c.117C>A

1 paper

NM_001322466.2

p.N39K

c.117C>G

1 paper

NM_001322466.2

p.K45insFs

c.133_134insT

1 paper

NM_001322466.2

p.K45I

c.134A>T

1 paper

NM_001322466.2

p.F37fs

c.109_110fs

1 paper

NM_001322466.2

p.F37_S38delFs

c.109_112del4

1 paper

NM_001322466.2

p.I48_E49del1

c.143_145delTTG

1 paper

NM_001322466.2

p.I48S

c.143T>G

3 papers

NM_001322466.2

p.R35H

c.104G>A