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

11 papers

NM_017671.5

p.W616*

c.1847G>A

Surrounding Variants

11 papers

NM_017671.5

p.W616*

c.1848G>A

3 papers

NM_017671.5

p.E617_T618insFs

c.1851_1852ins4

3 papers

NM_017671.5

p.W616_E617insFs

c.1848_1851dup4

1 paper

NM_017671.5

p.Q620_V621Splc

c.1860+1G>C

3 papers

NM_017671.5

p.Q620_V621Splc

c.1860+2T>C

1 paper

NM_017671.5

p.N608H

c.1822A>C

1 paper

NM_017671.5

p.W604*

c.1811G>A

1 paper

NM_017671.5

p.P600P

c.1800A>G

1 paper

NM_017671.5

p.A595P

c.1783G>C

1 paper

NM_017671.5

p.N588D

c.1762A>G

2 papers

NM_017671.5

p.Y587*

c.1761T>G

2 papers

NM_017671.5

p.Y587*

c.1761T>A