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.M587delins

c.1760_1761delinsTT

Surrounding Variants

1 paper

NM_001371189.2

p.D611_K615delFs

c.1833_1843del11

1 paper

NM_001371189.2

p.D611_K615delFs

c.1832_1844del13

1 paper

NM_001371189.2

p.K615_T616delFs

c.1845_1846delAA

1 paper

NM_001371189.2

p.K615fs

c.1843_1844fs

1 paper

NM_001371189.2

p.K552K

c.1656G>A

1 paper

NM_001371189.2

p.F631Y

c.1892T>A

1 paper

NM_001371189.2

p.P680delFs

c.2039_2040delCA

1 paper

NM_001371189.2

p.G484S

c.1450G>A

1 paper

NM_001371189.2

p.N693H

c.2077A>C

1 paper

NM_001371189.2

p.Y472_E478del7

c.1414_1433del21

1 paper

NM_001371189.2

p.A708T

c.2122G>A

1 paper

NM_001371189.2

p.S712G

c.2134A>G