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_006377.6

p.G794D

c.2381G>A

Surrounding Variants

1 paper

NM_006377.6

p.M813T

c.2438T>C

1 paper

NM_001371189.2

p.S3587F

c.10760C>T

1 paper

NM_001371189.2

p.R3414C

c.10240C>T

1 paper

NM_006377.6

p.R661C

c.1981C>T

1 paper

NM_001371189.2

p.F3402Splc

c.10206-84G>A

1 paper

NM_001371189.2

p.R3625_N3626Splc

c.10875+52A>G

1 paper

NM_001371189.2

p.G3368R

c.10102G>A

2 papers

NM_006377.6

p.S590R

c.1770T>A

2 papers

NM_006377.6

p.S590R

c.1770T>G

2 papers

NM_006377.6

p.S590R

c.1768A>C

1 paper

NM_006377.6

p.G882W

c.2644G>T

1 paper

NM_006377.6

p.R507H

c.1520G>A