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

5 papers

NM_001042681.2

p.E24_K25delFs

c.72_73delTC

Surrounding Variants

2 papers

NM_001042681.2

p.E24fs

c.70_71fs

1 paper

NM_001042681.2

p.E24A

c.71A>C

1 paper

NM_001042681.2

p.E24Q

c.70G>C

1 paper

NM_001042681.2

p.E24K

c.70G>A

3 papers

NM_001042681.2

p.D27fs

c.79_80fs

1 paper

NM_001042681.2

p.D27A

c.80A>C

1 paper

NM_001042681.2

p.D27fs

c.79_80fs

1 paper

NM_001042681.2

p.R30K

c.89G>A

1 paper

NM_001042681.2

p.E31K

c.91G>A

2 papers

NM_001042681.2

p.E31E

c.93G>A

1 paper

NM_001042681.2

p.R19W

c.55C>T

1 paper

NM_001042681.2

p.R19R

c.55C>A