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.D4198Y

c.12592G>T

Surrounding Variants

1 paper

NM_001371189.2

p.K4239R

c.12716A>G

1 paper

NM_001371189.2

p.F4246Splc

c.12737+1G>A

1 paper

NM_006377.6

p.V1444Splc

c.4330+7G>A

1 paper

NM_001371189.2

p.G4183D

c.12548G>A

1 paper

NM_006377.6

p.V1525M

c.4573G>A

2 papers

NM_006377.6

p.R1585H

c.4754G>A

1 paper

NM_006377.6

p.T1398A

c.4192A>G

1 paper

NM_001371189.2

p.A4139T

c.12415G>A

1 paper

NM_001371189.2

p.P4131delins

c.12391_12392delinsTT

1 paper

NM_006377.6

p.I1362T

c.4085T>C

1 paper

NM_006377.6

p.P1349T

c.4045C>A

1 paper

NM_006377.6

p.K1336_D1337Splc

c.4008+1G>A