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.K150delFs

c.450delC

Surrounding Variants

8 papers

NM_017671.5

p.K152insFs

c.456dupA

1 paper

NM_017671.5

p.N155fs

c.463_464fs

12 papers

NM_017671.5

p.N155delFs

c.463delT

4 papers

NM_017671.5

p.I160T

c.479T>C

2 papers

NM_017671.5

p.S137_K140del4

c.409_419del12

1 paper

NM_017671.5

p.D163H

c.487G>C

1 paper

NM_017671.5

p.L138fs

c.412_413fs

7 papers

NM_017671.5

p.E168*

c.502G>T

1 paper

NM_017671.5

p.E168K

c.502G>A

2 papers

NM_017671.5

p.E168G

c.503A>G

1 paper

NM_017671.5

p.E168D

c.504G>T

1 paper

NM_017671.5

p.E168D

c.504G>C