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

13 papers

NM_031471.6

p.R509*

c.1525C>T

NM_178443.3

p.R513*

c.1537C>T

Surrounding Variants

1 paper

NM_178443.3

p.Q512P

c.1535A>C

1 paper

NM_178443.3

p.Q512L

c.1535A>T

1 paper

NM_178443.3

p.K514N

c.1542G>C

1 paper

NM_178443.3

p.K514N

c.1542G>T

1 paper

NM_178443.3

p.F511C

c.1532T>G

1 paper

NM_178443.3

p.R510H

c.1529G>A

1 paper

NM_178443.3

p.R510S

c.1528C>A

1 paper

NM_178443.3

p.R510C

c.1528C>T

1 paper

NM_178443.3

p.P509L

c.1526C>T

1 paper

NM_178443.3

p.P509S

c.1525C>T

1 paper

NM_031471.6

p.Q515*

c.1543C>T

1 paper

NM_031471.6

p.V503F

c.1507G>T