Varaico: Literature-Extracted Genetic Variants

FERMT1

196 papers

RefSeq Summary

This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskele...

Pfam Domains

Kindlin_2_Naa 7–95UCSCKindlin-2 N-terminal domain

FERM_Maa 279–419UCSCFERM central domain

PHaa 374–473UCSCPH domain

FERM_Maa 445–570UCSCFERM central domain

Gene Aliases

HGNC Name

FERM domain containing kindlin 1

HGNC Previous Symbol

C20orf42

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017671.5

p.S222G

c.664A>G

Surrounding Variants

2 papers

NM_017671.5

p.A220T

c.658G>A

1 paper

NM_017671.5

p.P225S

c.673C>T

4 papers

NM_017671.5

p.Q226fs

c.676_677fs

5 papers

NM_017671.5

p.Q226*

c.676C>T

45 papers

NM_017671.5

p.Q226insFs

c.676_677insC

3 papers

NM_017671.5

p.Q226delFs

c.676delG

1 paper

NM_017671.5

p.Q226fs

c.676_677fs

1 paper

NM_017671.5

p.T212T

c.636G>A

1 paper

NM_017671.5

p.A232V

c.695C>T

1 paper

NM_017671.5

p.D208delFs

c.622delC

9 papers

NM_017671.5

p.W205*

c.615G>A

10 papers

NM_017671.5

p.W205*

c.614G>A