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

1–12 of 642 variants

39 papers

NM_194454.3

p.Q455*

c.1363C>T

13 papers

NM_194454.3

p.Q201E

c.601C>G

11 papers

NM_194454.3

p.V660V

c.1980A>G

11 papers

NM_194454.3

p.Q698*

c.2092C>T

10 papers

NM_194454.3

p.R179*

c.535C>T

10 papers

NM_194454.3

p.N399_K400delFs

c.1197_1200del4

10 papers

NM_194454.3

p.S454_Q455delFs

c.1362_1363delGA

10 papers

NM_194454.3

p.C466delFs

c.1396delA

9 papers

NM_194454.3

p.W330Splc

c.989+63C>G

9 papers

NM_194454.3

p.S430*

c.1289C>G

9 papers

NM_194454.3

p.S430*

c.1289C>A

9 papers

NM_194454.3

p.L514delFs

c.1542delA