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.F507delFs

c.1520delA

Surrounding Variants

1 paper

NM_194454.3

p.R509*

c.1525A>T

2 papers

NM_194454.3

p.L506R

c.1517T>G

2 papers

NM_194454.3

p.R510fs

c.1528_1529fs

1 paper

NM_194454.3

p.R510delFs

c.1528delT

3 papers

NM_194454.3

p.L508_R510delFs

c.1524_1528del5

1 paper

NM_194454.3

p.D511fs

c.1531_1532fs

1 paper

NM_194454.3

p.Q505*

c.1513C>T

2 papers

NM_194454.3

p.E502_P504delFs

c.1505_1511del7

1 paper

NM_194454.3

p.D511delFs

c.1531delC

1 paper

NM_194454.3

p.E502_T503del2

c.1504_1508del6

1 paper

NM_194454.3

p.V512G

c.1535T>G

1 paper

NM_194454.3

p.T503R

c.1508C>G