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

1–12 of 199 variants

3 papers

NM_001371189.2

p.T103M

c.308C>T

3 papers

NM_001371189.2

p.D238E

c.714C>A

3 papers

NM_001371189.2

p.D238E

c.714C>G

2 papers

NM_001371189.2

p.T22I

c.65C>T

2 papers

NM_001371189.2

p.A81V

c.242C>T

2 papers

NM_001371189.2

p.T205I

c.614C>T

2 papers

NM_001371189.2

p.R1495K

c.4484G>A

2 papers

NM_006377.6

p.S590R

c.1768A>C

2 papers

NM_006377.6

p.S590R

c.1770T>A

2 papers

NM_006377.6

p.S590R

c.1770T>G

2 papers

NM_006377.6

p.R1585H

c.4754G>A

1 paper

NM_001371189.2

p.V8Splc

c.22+4A>C