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.W229*

c.687G>A

Surrounding Variants

2 papers

NM_031471.6

p.W229C

c.687G>C

2 papers

NM_031471.6

p.W229C

c.687G>T

10 papers

NM_031471.6

p.W229*

c.686G>A

1 paper

NM_031471.6

p.R228Splc

c.684-5C>G

1 paper

NM_031471.6

p.S233L

c.698C>T

1 paper

NM_031471.6

p.M237T

c.710T>C

1 paper

NM_031471.6

p.G240R

c.718G>C

1 paper

NM_031471.6

p.I241T

c.722T>C

1 paper

NM_031471.6

p.K242Q

c.724A>C

1 paper

NM_031471.6

p.A243V

c.728C>T

1 paper

NM_031471.6

p.A243A

c.729C>T

1 paper

NM_031471.6

p.G244R

c.730G>A