Varaico: Literature-Extracted Genetic Variants

ABCE1

100 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC gen...

Pfam Domains

Fer4_RLIaa 6–37UCSCPossible Fer4-like domain in RNase L inhibitor, RLI

Fer4aa 48–71UCSC4Fe-4S binding domain

ABC_tranaa 99–245UCSCABC transporter

ABC_tranaa 362–490UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily E member 1

HGNC Previous Symbols

RNASEL1; RNASELI; RNS4I

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002940.3

p.K27R

c.80A>G

Surrounding Variants

1 paper

NM_002940.3

p.C29S

c.85T>A

4 papers

NM_002940.3

p.C25S

c.74G>C

1 paper

NM_002940.3

p.C29S

c.86G>C

4 papers

NM_002940.3

p.C25S

c.73T>A

1 paper

NM_002940.3

p.P30A

c.88C>G

1 paper

NM_002940.3

p.V32F

c.94G>T

1 paper

NM_002940.3

p.R22Q

c.65G>A

1 paper

NM_002940.3

p.R33*

c.97C>T

1 paper

NM_002940.3

p.C21S

c.62G>C

1 paper

NM_002940.3

p.C21S

c.61T>A

1 paper

NM_002940.3

p.K20R

c.59A>G

1 paper

NM_002940.3

p.P18A

c.52C>G