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_031471.6

p.G244R

c.730G>A

Surrounding Variants

1 paper

NM_031471.6

p.G244R

c.730G>C

1 paper

NM_031471.6

p.A243A

c.729C>T

2 papers

NM_031471.6

p.G244E

c.731G>A

1 paper

NM_031471.6

p.A243V

c.728C>T

1 paper

NM_031471.6

p.D245H

c.733G>C

1 paper

NM_031471.6

p.D245fs

c.733_734fs

1 paper

NM_031471.6

p.D245G

c.734A>G

1 paper

NM_031471.6

p.K242Q

c.724A>C

3 papers

NM_031471.6

p.A246T

c.736G>A

1 paper

NM_031471.6

p.A246V

c.737C>T

1 paper

NM_031471.6

p.I241T

c.722T>C

1 paper

NM_031471.6

p.L247V

c.739C>G