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.T188fs

c.562_563fs

Surrounding Variants

2 papers

NM_194454.3

p.I186insFs

c.557dupT

1 paper

NM_194454.3

p.V190A

c.569T>C

1 paper

NM_194454.3

p.R185_N189delFs

c.554_567del14

1 paper

NM_194454.3

p.L183fs

c.547_548fs

1 paper

NM_194454.3

p.L183insFs

c.547_548ins5

3 papers

NM_194454.3

p.P193T

c.577C>A

1 paper

NM_194454.3

p.P180fs

c.538_539fs

1 paper

NM_194454.3

p.P180delFs

c.539delG

10 papers

NM_194454.3

p.R179*

c.535C>T

1 paper

NM_194454.3

p.T197T

c.591T>C

1 paper

NM_194454.3

p.E198G

c.593A>G

1 paper

NM_194454.3

p.S199*

c.596C>G