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

12 papers

NM_017671.5

p.R573Splc

c.1718+2T>C

Surrounding Variants

9 papers

NM_017671.5

p.R573Splc

c.1718+1G>A

1 paper

NM_017671.5

p.V572D

c.1715T>A

11 papers

NM_017671.5

p.V572insFs

c.1714_1715insA

1 paper

NM_017671.5

p.V572fs

c.1714_1715fs

2 papers

NM_017671.5

p.F565F

c.1695T>C

3 papers

NM_017671.5

p.W559*

c.1677G>A

1 paper

NM_017671.5

p.W559*

c.1676G>A

2 papers

NM_017671.5

p.W559R

c.1675T>C

2 papers

NM_017671.5

p.W559R

c.1675T>A

1 paper

NM_017671.5

p.R573Splc

c.1718+52C>T

1 paper

NM_017671.5

p.I556M

c.1668C>G

1 paper

NM_017671.5

p.R554Q

c.1661G>A