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.T113N

c.338C>A

Surrounding Variants

1 paper

NM_001371189.2

p.T113insFs

c.338_339ins8

1 paper

NM_001371189.2

p.T117fs

c.349_350fs

1 paper

NM_001371189.2

p.T117I

c.350C>T

1 paper

NM_001371189.2

p.H119R

c.356A>G

1 paper

NM_001371189.2

p.I121_T125delFs

c.361_373del13

3 papers

NM_001371189.2

p.T103M

c.308C>T

1 paper

NM_001371189.2

p.D124N

c.370G>A

1 paper

NM_001371189.2

p.A101P

c.301G>C

1 paper

NM_001371189.2

p.E100Q

c.298G>C

1 paper

NM_001371189.2

p.S88L

c.263C>T

1 paper

NM_001371189.2

p.R86H

c.257G>A

1 paper

NM_001371189.2

p.I85T

c.254T>C