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

4 papers

NM_001322466.2

p.L55P

c.164T>C

Surrounding Variants

1 paper

NM_001322466.2

p.C56insFs

c.167_168insC

1 paper

NM_001322466.2

p.K53_D54Splc

c.160-1G>C

1 paper

NM_001322466.2

p.K58delFs

c.173delA

3 papers

NM_001322466.2

p.D59N

c.175G>A

1 paper

NM_001322466.2

p.H61Y

c.181C>T

1 paper

NM_001322466.2

p.W62_G65delFs

c.185_195del11

2 papers

NM_001322466.2

p.H63D

c.187C>G

1 paper

NM_001322466.2

p.H63R

c.188A>G

1 paper

NM_001322466.2

p.E64A

c.191A>C

1 paper

NM_001322466.2

p.E64_C69delFs

c.192_205del14

1 paper

NM_001322466.2

p.F67Y

c.200T>A

1 paper

NM_001322466.2

p.F67L

c.201C>A