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

1 paper

NM_001371189.2

p.P202S

c.604C>T

Surrounding Variants

1 paper

NM_001371189.2

p.P202L

c.605C>T

2 papers

NM_001371189.2

p.T205I

c.614C>T

1 paper

NM_001371189.2

p.T195S

c.584C>G

1 paper

NM_001371189.2

p.T195S

c.583A>T

1 paper

NM_001371189.2

p.P209S

c.625C>T

1 paper

NM_001371189.2

p.S193G

c.577A>G

1 paper

NM_001371189.2

p.R192L

c.575G>T

1 paper

NM_001371189.2

p.F216V

c.646T>G

1 paper

NM_001371189.2

p.R187Q

c.560G>A

1 paper

NM_001371189.2

p.A183T

c.547G>A

1 paper

NM_001371189.2

p.R221Q

c.662G>A

1 paper

NM_001371189.2

p.R221L

c.662G>T