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.V1134A

c.3401T>C

Surrounding Variants

1 paper

NM_001371189.2

p.S1139F

c.3416C>T

1 paper

NM_001371189.2

p.T1120T

c.3360T>A

1 paper

NM_001371189.2

p.A1105T

c.3313G>A

1 paper

NM_001371189.2

p.V1084I

c.3250G>A

1 paper

NM_001371189.2

p.A1080D

c.3239C>A

1 paper

NM_001371189.2

p.L1079*

c.3236T>A

1 paper

NM_001371189.2

p.L1079*

c.3236T>G

1 paper

NM_001371189.2

p.E1075D

c.3225A>C

1 paper

NM_001371189.2

p.E1075D

c.3225A>T

1 paper

NM_001371189.2

p.D1223N

c.3667G>A

1 paper

NM_001371189.2

p.N1238_H1239insA

c.3712_3716ins3

1 paper

NM_001371189.2

p.H1243R

c.3728A>G