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.F6F

c.18T>C

Surrounding Variants

1 paper

NM_001322466.2

p.H5_F6insAA

c.13_17ins6

2 papers

NM_001322466.2

p.A4V

c.11C>T

2 papers

NM_001322466.2

p.A4T

c.10G>A

1 paper

NM_001322466.2

p.T3P

c.7A>C

1 paper

NM_001322466.2

p.T2insFs

c.5_6insAA

1 paper

NM_001322466.2

p.T2S

c.4A>T

1 paper

NM_001322466.2

p.M1I

c.3G>A

2 papers

NM_001322466.2

p.M1T

c.2T>C

1 paper

NM_001322466.2

p.M1insFs

c.3dupG

1 paper

NM_001322466.2

p.M1insFs

c.2dupT

2 papers

NM_001322466.2

p.M1V

c.1A>G

1 paper

NM_001322466.2

p.M1delFs

c.2delT