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

1 paper

NM_178443.3

p.R598H

c.1793G>A

Surrounding Variants

1 paper

NM_178443.3

p.R598C

c.1792C>T

1 paper

NM_178443.3

p.Q599*

c.1795C>T

5 papers

NM_031471.6

p.Q595P

c.1784A>C

NM_178443.3

p.Q599P

c.1796A>C

1 paper

NM_178443.3

p.N596S

c.1787A>G

3 papers

NM_178443.3

p.W600*

c.1799G>A

NM_031471.6

p.W596*

c.1787G>A

3 papers

NM_178443.3

p.W600*

c.1800G>A

NM_031471.6

p.W596*

c.1788G>A

1 paper

NM_031471.6

p.N597delFs

c.1790delA

1 paper

NM_031471.6

p.N597fs

c.1789_1790fs

1 paper

NM_178443.3

p.N603H

c.1807A>C

1 paper

NM_178443.3

p.N603K

c.1809C>A

1 paper

NM_178443.3

p.N603K

c.1809C>G

1 paper

NM_178443.3

p.R593C

c.1777C>T