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.A81A

c.243G>A

Surrounding Variants

2 papers

NM_001371189.2

p.A81V

c.242C>T

1 paper

NM_001371189.2

p.I85T

c.254T>C

1 paper

NM_001371189.2

p.R86H

c.257G>A

1 paper

NM_001371189.2

p.S88L

c.263C>T

1 paper

NM_001371189.2

p.G68V

c.203G>T

1 paper

NM_001371189.2

p.G59S

c.175G>A

1 paper

NM_001371189.2

p.L58fs

c.172_173fs

1 paper

NM_001371189.2

p.R55H

c.164G>A

1 paper

NM_001371189.2

p.R55S

c.163C>A

1 paper

NM_001371189.2

p.S54T

c.161G>C

1 paper

NM_001371189.2

p.E52K

c.154G>A

1 paper

NM_001371189.2

p.E100Q

c.298G>C