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

11 papers

NM_194454.3

p.Q698*

c.2092C>T

Surrounding Variants

1 paper

NM_194454.3

p.C696fs

c.2086_2087fs

1 paper

NM_194454.3

p.H700L

c.2099A>T

1 paper

NM_194454.3

p.S701fs

c.2101_2102fs

1 paper

NM_194454.3

p.S701insFs

c.2101_2102insA

1 paper

NM_194454.3

p.D692A

c.2075A>C

2 papers

NM_194454.3

p.N704_K705insT

c.2110_2114ins3

1 paper

NM_194454.3

p.G691A

c.2072G>C

1 paper

NM_194454.3

p.L690delFs

c.2069delA

1 paper

NM_194454.3

p.L690fs

c.2068_2069fs

1 paper

NM_194454.3

p.Q689Q

c.2067A>G

1 paper

NM_194454.3

p.Q689*

c.2065C>T

1 paper

NM_194454.3

p.F708insFs

c.2124dupT