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.F562L

c.1686C>G

Surrounding Variants

1 paper

NM_178443.3

p.F562L

c.1686C>A

1 paper

NM_178443.3

p.F562L

c.1684T>C

1 paper

NM_031471.6

p.F558fs

c.1672_1673fs

4 papers

NM_031471.6

p.R557Splc

c.1671-2A>G

1 paper

NM_178443.3

p.K567R

c.1700A>G

1 paper

NM_031471.6

p.D564D

c.1692C>T

1 paper

NM_178443.3

p.E569K

c.1705G>A

1 paper

NM_178443.3

p.G572S

c.1714G>A

1 paper

NM_178443.3

p.A574T

c.1720G>A

1 paper

NM_178443.3

p.N576D

c.1726A>G

15 papers

NM_031471.6

p.R573*

c.1717C>T

NM_178443.3

p.R577*

c.1729C>T

1 paper

NM_178443.3

p.R577Q

c.1730G>A