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

1–12 of 242 variants

45 papers

NM_017671.5

p.Q226insFs

c.676_677insC

23 papers

NM_017671.5

p.E304*

c.910G>T

22 papers

NM_017671.5

p.R271*

c.811C>T

15 papers

NM_017671.5

p.R110*

c.328C>T

15 papers

NM_017671.5

p.Q319_Y320Splc

c.958-1G>A

15 papers

NM_017671.5

p.K387delFs

c.1161delT

14 papers

NM_017671.5

p.R288*

c.862C>T

12 papers

NM_017671.5

p.N155delFs

c.463delT

12 papers

NM_017671.5

p.L363delFs

c.1089delC

12 papers

NM_017671.5

p.R573Splc

c.1718+2T>C

11 papers

NM_017671.5

p.V572insFs

c.1714_1715insA

11 papers

NM_017671.5

p.W616*

c.1847G>A