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.L2346_P2349del4

c.7036_7046del12

Surrounding Variants

1 paper

NM_001371189.2

p.S2236P

c.6706T>C

1 paper

NM_001371189.2

p.Q2185P

c.6554A>C

1 paper

NM_001371189.2

p.G2508A

c.7523G>C

1 paper

NM_001371189.2

p.T2638A

c.7912A>G

1 paper

NM_001371189.2

p.G2039_K2040del2

c.6115_6119del6

1 paper

NM_001371189.2

p.K2038T

c.6113A>C

1 paper

NM_001371189.2

p.E2021K

c.6061G>A

1 paper

NM_001371189.2

p.H2723Q

c.8169C>A

1 paper

NM_001371189.2

p.H2723Q

c.8169C>G

1 paper

NM_001371189.2

p.D1875N

c.5623G>A

1 paper

NM_001371189.2

p.K1845_N1846del2

c.5533_5537del6

1 paper

NM_001371189.2

p.L1833_L1843del11

c.5497_5528del33