Varaico: Literature-Extracted Genetic Variants

FHL2

138 papers

RefSeq Summary

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines bind...

Pfam Domains

LIM_FHL2-3_Naa 6–33UCSCFHL2/3 N-terminal LIM domain

LIMaa 40–97UCSCLIM domain

LIMaa 101–158UCSCLIM domain

LIMaa 162–217UCSCLIM domain

LIMaa 221–278UCSCLIM domain

Gene Aliases

HGNC Name

four and a half LIM domains 2

HGNC Alias Symbols

SLIM3; DRAL

Papers

RefSeq ID

Protein change

DNA change

1–12 of 140 variants

9 papers

NM_001318895.3

p.R177Q

c.530G>A

8 papers

NM_001318895.3

p.G48S

c.142G>A

6 papers

NM_001318895.3

p.R131C

c.391C>T

5 papers

NM_001318895.3

p.R4C

c.10C>T

5 papers

NM_001318895.3

p.T171M

c.512C>T

4 papers

NM_001318895.3

p.M1V

c.1A>G

4 papers

NM_001318895.3

p.V29M

c.85G>A

4 papers

NM_001318895.3

p.D50N

c.148G>A

4 papers

NM_001318895.3

p.C129S

c.386G>C

3 papers

NM_001318895.3

p.C31G

c.91T>G

3 papers

NM_001318895.3

p.A37S

c.109G>T

3 papers

NM_001318895.3

p.R113C

c.337C>T