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.A1673V

c.5018C>T

Surrounding Variants

1 paper

NM_001371189.2

p.Q1682*

c.5044C>T

1 paper

NM_001371189.2

p.K1701_Q1703delins

c.5102_5109delinsTA

1 paper

NM_001371189.2

p.S1798L

c.5393C>T

1 paper

NM_001371189.2

p.E1832_N1844del13

c.5494_5531del39

1 paper

NM_001371189.2

p.L1833_L1843del11

c.5497_5528del33

1 paper

NM_001371189.2

p.E1508*

c.4522G>T

1 paper

NM_001371189.2

p.K1845_N1846del2

c.5533_5537del6

2 papers

NM_001371189.2

p.R1495K

c.4484G>A

1 paper

NM_001371189.2

p.D1480Y

c.4438G>T

1 paper

NM_001371189.2

p.S1477P

c.4429T>C

1 paper

NM_001371189.2

p.D1875N

c.5623G>A

1 paper

NM_001371189.2

p.P1460L

c.4379C>T