Varaico: Literature-Extracted Genetic Variants

ZBED1

38 papers

RefSeq Summary

This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. It was earlier identified as a gene with similarity to Ac transposable elements, however, was found not to have tran...

Pfam Domains

zf-BEDaa 23–72UCSCBED zinc finger

ZBED1_RNase-likeaa 197–292UCSCZBED1 RNase-like domain

ZBED1_RNase-like_helicalaa 288–400UCSCZBED1 RNase-like helical domain

Dimer_Tnp_hATaa 571–651UCSChAT family C-terminal dimerisation region

Gene Aliases

HGNC Name

zinc finger BED-type containing 1

HGNC Previous Symbol

ALTE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001171136.2

p.F31L

c.91T>C

Surrounding Variants

1 paper

NM_001171136.2

p.A52S

c.154G>T

1 paper

NM_001171136.2

p.Q53*

c.157C>T

1 paper

NM_001171136.2

p.E73G

c.218A>G

1 paper

NM_001171136.2

p.E77insFs

c.230dupA

1 paper

NM_001171136.2

p.T92I

c.275C>T

1 paper

NM_001171136.2

p.G115D

c.344G>A

1 paper

NM_001171136.2

p.G137R

c.409G>A

1 paper

NM_001171136.2

p.P147S

c.439C>T

1 paper

NM_001171136.2

p.K150_V151delFs

c.449_452del4

1 paper

NM_001171136.2

p.R165W

c.493C>T

1 paper

NM_001171136.2

p.S227C

c.680C>G

1 paper

NM_001171136.2

p.E253K

c.757G>A