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

9 papers

NM_017671.5

p.Q65*

c.193C>T

Surrounding Variants

3 papers

NM_017671.5

p.E64*

c.190G>T

1 paper

NM_017671.5

p.K66_H67insG

c.196_200ins3

1 paper

NM_017671.5

p.W63*

c.188G>A

1 paper

NM_017671.5

p.L61F

c.181C>T

1 paper

NM_017671.5

p.L71L

c.211C>T

1 paper

NM_017671.5

p.D58_L70del13

c.172_209del39

5 papers

NM_017671.5

p.S57*

c.170C>G

5 papers

NM_017671.5

p.S57*

c.170C>A

1 paper

NM_017671.5

p.H74delFs

c.220delG

1 paper

NM_017671.5

p.Q54E

c.160C>G

1 paper

NM_017671.5

p.T76I

c.227C>T

3 papers

NM_017671.5

p.N51Splc

c.152-4G>A