Varaico: Literature-Extracted Genetic Variants

FERMT3

143 papers

RefSeq Summary

Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferatio...

Pfam Domains

Kindlin_2_Naa 11–98UCSCKindlin-2 N-terminal domain

FERM_Maa 258–558UCSCFERM central domain

PHaa 358–457UCSCPH domain

Gene Aliases

HGNC Name

FERM domain containing kindlin 3

HGNC Alias Symbols

URP2; KIND3; MIG2B; MGC10966; UNC112C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_031471.6

p.I42delFs

c.126delC

Surrounding Variants

1 paper

NM_031471.6

p.I42fs

c.124_125fs

1 paper

NM_031471.6

p.I42V

c.124A>G

1 paper

NM_031471.6

p.I42fs

c.124_125fs

2 papers

NM_031471.6

p.G43S

c.127G>A

1 paper

NM_031471.6

p.G43A

c.128G>C

1 paper

NM_031471.6

p.H41Y

c.121C>T

8 papers

NM_031471.6

p.G44R

c.130G>A

8 papers

NM_031471.6

p.G44R

c.130G>C

4 papers

NM_031471.6

p.S40L

c.119C>T

1 paper

NM_031471.6

p.S40P

c.118T>C

1 paper

NM_031471.6

p.V45L

c.133G>T

1 paper

NM_031471.6

p.E39A

c.116A>C