Varaico: Literature-Extracted Genetic Variants

RERE

458 papers

RefSeq Summary

This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and ...

Pfam Domains

BAHaa 103–283UCSCBAH domain

ELM2aa 286–336UCSCELM2 domain

GATAaa 507–542UCSCGATA zinc finger

Gene Aliases

HGNC Name

arginine-glutamic acid dipeptide repeats

HGNC Previous Symbol

ATN1L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001042681.2

p.K83delFs

c.248delT

Surrounding Variants

1 paper

NM_001042681.2

p.K83fs

c.247_248fs

4 papers

NM_001042681.2

p.K83insFs

c.248dupA

3 papers

NM_001042681.2

p.S84fs

c.250_251fs

1 paper

NM_001042681.2

p.S84Y

c.251C>A

1 paper

NM_001042681.2

p.Y86C

c.257A>G

1 paper

NM_001042681.2

p.P80fs

c.238_239fs

1 paper

NM_001042681.2

p.R88G

c.262A>G

1 paper

NM_001042681.2

p.R88K

c.263G>A

2 papers

NM_001042681.2

p.D90N

c.268G>A

1 paper

NM_001042681.2

p.D90A

c.269A>C

3 papers

NM_001042681.2

p.T72_K73del2

c.214_218del6

1 paper

NM_001042681.2

p.T72M

c.215C>T