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.S609insFs

c.1825dupA

Surrounding Variants

1 paper

NM_194454.3

p.N607insFs

c.1820dupA

1 paper

NM_194454.3

p.N607fs

c.1819_1820fs

1 paper

NM_194454.3

p.E612E

c.1836A>G

1 paper

NM_194454.3

p.S615fs

c.1843_1844fs

1 paper

NM_194454.3

p.S615insFs

c.1843dupA

1 paper

NM_194454.3

p.S615T

c.1844G>C

1 paper

NM_194454.3

p.S615N

c.1844G>A

1 paper

NM_194454.3

p.S615_K616Fs

c.1844_1846delinsCTFs

2 papers

NM_194454.3

p.K616delFs

c.1846delT

1 paper

NM_194454.3

p.M618fs

c.1852_1853fs

1 paper

NM_194454.3

p.M618L

c.1852A>T

1 paper

NM_194454.3

p.M618L

c.1852A>C