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.H920R

c.2759A>G

Surrounding Variants

1 paper

NM_001371189.2

p.L887insFs

c.2660_2661insC

1 paper

NM_001371189.2

p.G882*

c.2644G>T

1 paper

NM_001371189.2

p.R867G

c.2599A>G

1 paper

NM_001371189.2

p.D982E

c.2946C>A

1 paper

NM_001371189.2

p.D982E

c.2946C>G

1 paper

NM_001371189.2

p.F857C

c.2570T>G

1 paper

NM_001371189.2

p.P996_K1005delFs

c.2988_3013del26

1 paper

NM_001371189.2

p.V839M

c.2515G>A

1 paper

NM_001371189.2

p.A1009T

c.3025G>A

1 paper

NM_001371189.2

p.T1012S

c.3035C>G

1 paper

NM_001371189.2

p.Q1013R

c.3038A>G

1 paper

NM_001371189.2

p.R811G

c.2431A>G