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

22 papers

NM_017671.5

p.R271*

c.811C>T

Surrounding Variants

2 papers

NM_017671.5

p.R271Q

c.812G>A

1 paper

NM_017671.5

p.F277L

c.829T>C

1 paper

NM_017671.5

p.D265H

c.793G>C

1 paper

NM_017671.5

p.F277L

c.831C>G

1 paper

NM_017671.5

p.F277L

c.831C>A

9 papers

NM_017671.5

p.Q263*

c.787C>T

1 paper

NM_017671.5

p.Q260delFs

c.778delG

1 paper

NM_017671.5

p.Q260fs

c.778_779fs

1 paper

NM_017671.5

p.L257I

c.769C>A

1 paper

NM_017671.5

p.R255C

c.763C>T

1 paper

NM_017671.5

p.S254P

c.760T>C

1 paper

NM_017671.5

p.L251L

c.751C>T