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.Y23N

c.67T>A

Surrounding Variants

2 papers

NM_001371189.2

p.T22I

c.65C>T

1 paper

NM_001371189.2

p.V31V

c.93G>A

1 paper

NM_001371189.2

p.K32E

c.94A>G

1 paper

NM_001371189.2

p.V36A

c.107T>C

1 paper

NM_001371189.2

p.A37P

c.109G>C

1 paper

NM_001371189.2

p.R39C

c.115C>T

1 paper

NM_001371189.2

p.W45*

c.134G>A

1 paper

NM_001371189.2

p.W45*

c.135G>A

1 paper

NM_001371189.2

p.F51Splc

c.152+1G>A

1 paper

NM_001371189.2

p.D18Splc

c.52+1G>A

1 paper

NM_001371189.2

p.P17S

c.49C>T

1 paper

NM_001371189.2

p.G15S

c.43G>A