Varaico: Literature-Extracted Genetic Variants

KRIT1

475 papers

RefSeq Summary

This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. ...

Pfam Domains

NUDIX_5aa 22–198UCSCNUDIX, or N-terminal NPxY motif-rich, region of KRIT

Ankaa 320–353UCSCAnkyrin repeat

Ankaa 355–387UCSCAnkyrin repeat

FERM_Maa 517–640UCSCFERM central domain

KRIT1_FRMD8_FERM_Caa 656–721UCSCKRIT1/FRMD8, FERM domain C-lobe

Gene Aliases

HGNC Name

KRIT1 ankyrin repeat containing

HGNC Previous Symbol

CCM1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_194454.3

p.K216delFs

c.646_647delTT

Surrounding Variants

2 papers

NM_194454.3

p.K216fs

c.646_647fs

1 paper

NM_194454.3

p.E214G

c.641A>G

2 papers

NM_194454.3

p.L213P

c.638T>C

1 paper

NM_194454.3

p.A212P

c.634G>C

1 paper

NM_194454.3

p.M208I

c.624G>T

1 paper

NM_194454.3

p.M208I

c.624G>C

1 paper

NM_194454.3

p.M208I

c.624G>A

1 paper

NM_194454.3

p.L206_H207Fs

c.618_619delinsGFs

1 paper

NM_194454.3

p.L206L

c.618A>T

1 paper

NM_194454.3

p.T227delFs

c.681delG

1 paper

NM_194454.3

p.P193_N204del12

c.577_611del36

1 paper

NM_194454.3

p.Y230*

c.690C>G