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.L37*

c.110T>G

Surrounding Variants

1 paper

NM_002940.3

p.L37*

c.110T>A

1 paper

NM_002940.3

p.P43S

c.127C>T

1 paper

NM_002940.3

p.E52*

c.154G>T

1 paper

NM_002940.3

p.C55S

c.163T>A

1 paper

NM_002940.3

p.C55S

c.164G>C

1 paper

NM_002940.3

p.C58S

c.172T>A

1 paper

NM_002940.3

p.C58S

c.173G>C

1 paper

NM_002940.3

p.C58*

c.174T>A

3 papers

NM_002940.3

p.C61S

c.181T>A

3 papers

NM_002940.3

p.C61S

c.182G>C

1 paper

NM_002940.3

p.R33*

c.97C>T

1 paper

NM_002940.3

p.V32F

c.94G>T