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

11 papers

NM_031471.6

p.G308R

c.922G>C

Surrounding Variants

12 papers

NM_031471.6

p.G308R

c.922G>A

2 papers

NM_031471.6

p.S307delFs

c.921delC

2 papers

NM_031471.6

p.S307fs

c.919_920fs

1 paper

NM_031471.6

p.E309A

c.926A>C

1 paper

NM_031471.6

p.Q306H

c.918G>C

1 paper

NM_031471.6

p.Q306H

c.918G>T

1 paper

NM_031471.6

p.S305F

c.914C>T

1 paper

NM_031471.6

p.V310V

c.930G>C

1 paper

NM_031471.6

p.G311E

c.932G>A

1 paper

NM_031471.6

p.I301V

c.901A>G

1 paper

NM_031471.6

p.Q298_Y299Splc

c.895-3T>G

1 paper

NM_031471.6

p.Q298_Y299Splc

c.895-4C>T