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

9 papers

NM_194454.3

p.S430*

c.1289C>G

Surrounding Variants

9 papers

NM_194454.3

p.S430*

c.1289C>A

3 papers

NM_194454.3

p.Y431fs

c.1291_1292fs

1 paper

NM_194454.3

p.D428D

c.1284T>C

7 papers

NM_194454.3

p.Y431delFs

c.1292_1293delAT

1 paper

NM_194454.3

p.D428fs

c.1282_1283fs

2 papers

NM_194454.3

p.R426_M427delFs

c.1277_1280del4

1 paper

NM_194454.3

p.V434fs

c.1300_1301fs

2 papers

NM_194454.3

p.V434delFs

c.1300delC

1 paper

NM_001013406.2

p.E387*

c.1159G>T

NM_194454.3

p.E435*

c.1303G>T

1 paper

NM_194454.3

p.E435K

c.1303G>A

3 papers

NM_194454.3

p.I424_Y425delFs

c.1270_1273del4

1 paper

NM_194454.3

p.Y419_I424delFs

c.1255_1270del16