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

1–12 of 188 variants

10 papers

NM_001322466.2

p.R204G

c.610A>G

9 papers

NM_001322466.2

p.S243R

c.727A>C

9 papers

NM_001322466.2

p.S243R

c.729C>A

9 papers

NM_001322466.2

p.S243R

c.729C>G

4 papers

NM_001322466.2

p.G17G

c.51G>T

4 papers

NM_001322466.2

p.L55P

c.164T>C

4 papers

NM_001322466.2

p.V211M

c.631G>A

3 papers

NM_001322466.2

p.R35H

c.104G>A

3 papers

NM_001322466.2

p.D59N

c.175G>A

2 papers

NM_001322466.2

p.M1V

c.1A>G

2 papers

NM_001322466.2

p.M1T

c.2T>C

2 papers

NM_001322466.2

p.A4T

c.10G>A