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.V403A

c.1208T>C

Surrounding Variants

1 paper

NM_001371189.2

p.T397I

c.1190C>T

1 paper

NM_001371189.2

p.P396delFs

c.1188delA

1 paper

NM_001371189.2

p.Y413insFs

c.1238_1239insA

1 paper

NM_001371189.2

p.K389N

c.1167G>T

1 paper

NM_001371189.2

p.K389T

c.1166A>C

1 paper

NM_001371189.2

p.S387S

c.1161T>G

1 paper

NM_001371189.2

p.P385S

c.1153C>T

1 paper

NM_001371189.2

p.L381del1

c.1141_1142delCTT

1 paper

NM_001371189.2

p.D379N

c.1135G>A

1 paper

NM_001371189.2

p.V361_S373del13

c.1081_1118del39

1 paper

NM_001371189.2

p.E338_S339ins8

c.1012_1016ins24

1 paper

NM_001371189.2

p.Y472_E478del7

c.1414_1433del21