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.Q388*

c.1162C>T

Surrounding Variants

3 papers

NM_194454.3

p.Q387P

c.1160A>C

4 papers

NM_194454.3

p.Q387*

c.1159C>T

1 paper

NM_194454.3

p.G389fs

c.1165_1166fs

1 paper

NM_194454.3

p.G389delFs

c.1166delC

1 paper

NM_194454.3

p.T385delFs

c.1153delT

2 papers

NM_194454.3

p.S391F

c.1172C>T

1 paper

NM_194454.3

p.P392_L393ins9

c.1174_1178ins27

1 paper

NM_194454.3

p.P392insFs

c.1175dupC

2 papers

NM_194454.3

p.R382_H383Splc

c.1147-2A>G

2 papers

NM_194454.3

p.R382_H383Splc

c.1147-7T>G

3 papers

NM_194454.3

p.R382_H383Splc

c.1147-13C>G

1 paper

NM_194454.3

p.E398K

c.1192G>A