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

4 papers

NM_017671.5

p.R100del1

c.298_299delACG

Surrounding Variants

1 paper

NM_017671.5

p.R100H

c.299G>A

1 paper

NM_017671.5

p.R98H

c.293G>A

2 papers

NM_017671.5

p.R98C

c.292C>T

1 paper

NM_017671.5

p.M96_L97del2

c.286_290del6

2 papers

NM_017671.5

p.Q93*

c.277C>T

15 papers

NM_017671.5

p.R110*

c.328C>T

1 paper

NM_017671.5

p.L88R

c.263T>G

4 papers

NM_017671.5

p.S114*

c.341C>G

4 papers

NM_017671.5

p.S114*

c.341C>A

2 papers

NM_017671.5

p.L88F

c.262C>T

1 paper

NM_017671.5

p.G81G

c.243G>A

1 paper

NM_017671.5

p.Y80*

c.240T>G