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.L318Q

c.953T>A

Surrounding Variants

2 papers

NM_017671.5

p.Q319_Y320Splc

c.957+1G>A

1 paper

NM_017671.5

p.M312K

c.935T>A

23 papers

NM_017671.5

p.E304*

c.910G>T

1 paper

NM_017671.5

p.E303K

c.907G>A

8 papers

NM_017671.5

p.L302*

c.905T>G

8 papers

NM_017671.5

p.L302*

c.905T>A

1 paper

NM_017671.5

p.A299_L301del3

c.895_902del9

3 papers

NM_017671.5

p.R297G

c.889A>G

1 paper

NM_017671.5

p.Y293D

c.877T>G

1 paper

NM_017671.5

p.I289insFs

c.866_867insGG

14 papers

NM_017671.5

p.R288*

c.862C>T

15 papers

NM_017671.5

p.Q319_Y320Splc

c.958-1G>A