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.P381H

c.1142C>A

Surrounding Variants

1 paper

NM_017671.5

p.P381R

c.1142C>G

2 papers

NM_017671.5

p.P381fs

c.1141_1142fs

10 papers

NM_017671.5

p.R380Splc

c.1140-6T>A

1 paper

NM_017671.5

p.K383_L385del3

c.1147_1154del9

15 papers

NM_017671.5

p.K387delFs

c.1161delT

1 paper

NM_017671.5

p.F389S

c.1166T>C

1 paper

NM_017671.5

p.K390insFs

c.1168_1169insT

1 paper

NM_017671.5

p.K390delFs

c.1169delT

3 papers

NM_017671.5

p.Y392*

c.1176T>G

2 papers

NM_017671.5

p.Y392*

c.1176T>A

3 papers

NM_017671.5

p.W393*

c.1178G>A

3 papers

NM_017671.5

p.W393*

c.1179G>A