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

1 paper

NM_194454.3

p.L667R

c.2000T>G

Surrounding Variants

1 paper

NM_194454.3

p.H668insFs

c.2003_2004insC

1 paper

NM_194454.3

p.K665fs

c.1993_1994fs

3 papers

NM_194454.3

p.N671fs

c.2011_2012fs

1 paper

NM_194454.3

p.N663S

c.1988A>G

1 paper

NM_194454.3

p.N671insFs

c.2012_2013ins4

1 paper

NM_194454.3

p.N671N

c.2013C>T

2 papers

NM_194454.3

p.N671delFs

c.2012delT

1 paper

NM_194454.3

p.G661*

c.1981G>T

2 papers

NM_194454.3

p.V660insFs

c.1979_1980dupTA

2 papers

NM_194454.3

p.T674fs

c.2020_2021fs

11 papers

NM_194454.3

p.V660V

c.1980A>G

1 paper

NM_194454.3

p.V660_G661insFs

c.1980_1981insTA