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.S325C

c.974C>G

Surrounding Variants

1 paper

NM_001171136.2

p.E334D

c.1002G>T

1 paper

NM_001171136.2

p.E334D

c.1002G>C

1 paper

NM_001171136.2

p.V341G

c.1022T>G

1 paper

NM_001171136.2

p.Q304*

c.910C>T

1 paper

NM_001171136.2

p.V276M

c.826G>A

1 paper

NM_001171136.2

p.I260I

c.780C>T

1 paper

NM_001171136.2

p.E253K

c.757G>A

1 paper

NM_001171136.2

p.S227C

c.680C>G

1 paper

NM_001171136.2

p.E438K

c.1312G>A

1 paper

NM_001171136.2

p.A452T

c.1354G>A

1 paper

NM_001171136.2

p.E449_A452del4

c.1345_1355del12

1 paper

NM_001171136.2

p.T458T

c.1374C>G