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.L131L

c.393T>C

Surrounding Variants

1 paper

NM_002940.3

p.N130S

c.389A>G

1 paper

NM_002940.3

p.N130D

c.388A>G

1 paper

NM_002940.3

p.K133M

c.398A>T

1 paper

NM_002940.3

p.D135H

c.403G>C

1 paper

NM_002940.3

p.G125G

c.375A>C

1 paper

NM_002940.3

p.L106L

c.318G>A

1 paper

NM_002940.3

p.L106S

c.317T>C

1 paper

NM_002940.3

p.I99T

c.296T>C

1 paper

NM_002940.3

p.P98delFs

c.292delC

1 paper

NM_002940.3

p.D136V

c.407A>T

1 paper

NM_002940.3

p.P137S

c.409C>T

1 paper

NM_002940.3

p.P138S

c.412C>T