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.R360H

c.1079G>A

Surrounding Variants

1 paper

NM_031471.6

p.R360P

c.1079G>C

1 paper

NM_178443.3

p.R360C

c.1078C>T

2 papers

NM_031471.6

p.R360Splc

c.1079+1G>T

1 paper

NM_031471.6

p.F359L

c.1077T>A

1 paper

NM_031471.6

p.F359L

c.1077T>G

1 paper

NM_031471.6

p.F359L

c.1075T>C

1 paper

NM_031471.6

p.I358T

c.1073T>C

6 papers

NM_031471.6

p.R357*

c.1069C>T

1 paper

NM_031471.6

p.H355R

c.1064A>G

1 paper

NM_031471.6

p.D354G

c.1061A>G

1 paper

NM_031471.6

p.L352insFs

c.1054dupC

1 paper

NM_031471.6

p.P350A

c.1048C>G