Varaico: Literature-Extracted Genetic Variants

UNC13B

101 papers

RefSeq Summary

This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains ...

Pfam Domains

C2aa 2–99UCSCC2 domain

C1_1aa 478–530UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

C2aa 600–709UCSCC2 domain

MUNaa 918–1405UCSCMUN domain

C2aa 1438–1548UCSCC2 domain

Gene Aliases

HGNC Name

unc-13 homolog B

HGNC Previous Symbol

UNC13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001371189.2

p.D238E

c.714C>A

Surrounding Variants

3 papers

NM_001371189.2

p.D238E

c.714C>G

1 paper

NM_001371189.2

p.Q241H

c.723A>C

1 paper

NM_001371189.2

p.Q241H

c.723A>T

1 paper

NM_001371189.2

p.D234insFs

c.701dupA

1 paper

NM_001371189.2

p.S232S

c.696C>G

1 paper

NM_001371189.2

p.G230V

c.689G>T

1 paper

NM_001371189.2

p.P248delFs

c.742delC

1 paper

NM_001371189.2

p.P248fs

c.742_743fs

1 paper

NM_001371189.2

p.L226R

c.677T>G

1 paper

NM_001371189.2

p.R221Q

c.662G>A

1 paper

NM_001371189.2

p.R221L

c.662G>T

1 paper

NM_001371189.2

p.F216V

c.646T>G