Varaico: Literature-Extracted Genetic Variants

KALRN

216 papers

RefSeq Summary

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a ...

Pfam Domains

CRAL_TRIO_2aa 54–181UCSCDivergent CRAL/TRIO domain

Spectrinaa 310–416UCSCSpectrin repeat

Gene Aliases

HGNC Name

kalirin RhoGEF kinase

HGNC Previous Symbol

HAPIP

Papers

RefSeq ID

Protein change

DNA change

1–12 of 258 variants

4 papers

NM_001388419.1

p.A64T

c.190G>A

3 papers

NM_001388419.1

p.D30N

c.88G>A

3 papers

NM_001388419.1

p.L32*

c.95T>A

3 papers

NM_001388419.1

p.L76V

c.226C>G

3 papers

NM_001388419.1

p.N501Y

c.1501A>T

3 papers

NM_007064.5

p.R10*

c.28C>T

2 papers

NM_001388419.1

p.K33R

c.98A>G

2 papers

NM_001388419.1

p.V45V

c.135G>A

2 papers

NM_001388419.1

p.L452R

c.1355T>G

2 papers

NM_001388419.1

p.V1017G

c.3050T>G

2 papers

NM_003947.6

p.T1215K

c.3644C>A

2 papers

NM_003947.6

p.D1338N

c.4012G>A