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.S14L

c.41C>T

Surrounding Variants

1 paper

NM_031471.6

p.S15T

c.43T>A

1 paper

NM_031471.6

p.D13N

c.37G>A

7 papers

NM_031471.6

p.W16*

c.47G>A

9 papers

NM_031471.6

p.W16*

c.48G>A

1 paper

NM_031471.6

p.L18V

c.52C>G

1 paper

NM_031471.6

p.L18P

c.53T>C

1 paper

NM_031471.6

p.R19W

c.55C>T

1 paper

NM_031471.6

p.R19Q

c.56G>A

1 paper

NM_031471.6

p.V20L

c.58G>C

1 paper

NM_031471.6

p.V20L

c.58G>T

1 paper

NM_031471.6

p.F21S

c.62T>C

1 paper

NM_031471.6

p.E25K

c.73G>A