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

1–12 of 102 variants

4 papers

NM_002940.3

p.C25S

c.73T>A

4 papers

NM_002940.3

p.C25S

c.74G>C

3 papers

NM_002940.3

p.C61S

c.181T>A

3 papers

NM_002940.3

p.C61S

c.182G>C

3 papers

NM_002940.3

p.P243A

c.727C>G

2 papers

NM_002940.3

p.Q141K

c.421C>A

2 papers

NM_002940.3

p.T194A

c.580A>G

1 paper

NM_002940.3

p.M1V

c.1A>G

1 paper

NM_002940.3

p.K4R

c.11A>G

1 paper

NM_002940.3

p.V11L

c.31G>C

1 paper

NM_002940.3

p.C16S

c.46T>A

1 paper

NM_002940.3

p.C16S

c.47G>C