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.L626*

c.1877T>G

Surrounding Variants

3 papers

NM_194454.3

p.L626*

c.1877T>A

2 papers

NM_194454.3

p.Q627*

c.1879C>T

1 paper

NM_194454.3

p.N628H

c.1882A>C

1 paper

NM_194454.3

p.R623insFs

c.1868_1869insC

1 paper

NM_194454.3

p.C629delFs

c.1885delA

1 paper

NM_194454.3

p.R623C

c.1867C>T

2 papers

NM_194454.3

p.W630*

c.1889G>A

3 papers

NM_194454.3

p.W630*

c.1890G>A

9 papers

NM_194454.3

p.Q622*

c.1864C>T

1 paper

NM_194454.3

p.P633fs

c.1897_1898fs

5 papers

NM_194454.3

p.I632_P633insFs

c.1896_1897insT

2 papers

NM_194454.3

p.T634_Y635insFs

c.1902_1903insA