Varaico: Literature-Extracted Genetic Variants

ETFB

140 papers

RefSeq Summary

This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism ...

Pfam Domains

ETFaa 27–214UCSCElectron transfer flavoprotein domain

Gene Aliases

HGNC Name

electron transfer flavoprotein subunit beta

HGNC Previous Name

electron-transfer-flavoprotein, beta polypeptide

Papers

RefSeq ID

Protein change

DNA change

1–12 of 101 variants

11 papers

NM_001985.3

p.T154M

c.461C>T

8 papers

NM_001985.3

p.D128N

c.382G>A

8 papers

NM_001985.3

p.R164Q

c.491G>A

7 papers

NM_001985.3

p.D84N

c.250G>A

6 papers

NM_001985.3

p.K202del1

c.604_605delCTT

4 papers

NM_001985.3

p.C42R

c.124T>C

4 papers

NM_001985.3

p.R164W

c.490C>T

4 papers

NM_001985.3

p.G169S

c.505G>A

4 papers

NM_001985.3

p.M199_K200Splc

c.597+1G>C

3 papers

NM_001985.3

p.R51Q

c.152G>A

3 papers

NM_001985.3

p.R76H

c.227G>A

3 papers

NM_001985.3

p.R98C

c.292C>T