Varaico: Literature-Extracted Genetic Variants

RTL1

137 papers

RefSeq Summary

This gene is a retrotransposon-derived, paternally expressed imprinted gene that is highly expressed at the late fetal stage in both the fetus and placenta. It has an overlapping maternally expressed ...

Pfam Domains

DUF4939aa 181–283UCSCDomain of unknown function (DUF4939)

RT_RNaseH_2aa 845–947UCSCRNase H-like domain found in reverse transcriptase

Gene Aliases

HGNC Name

retrotransposon Gag like 1

HGNC Alias Symbols

PEG11; MART1; Mar1; SIRH2; HUR1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 150 variants

5 papers

NM_001134888.3

p.P558T

c.1672C>A

4 papers

NM_001134888.3

p.E848Q

c.2542G>C

4 papers

NM_001134888.3

p.A852T

c.2554G>A

4 papers

NM_001134888.3

p.R1215H

c.3644G>A

2 papers

NM_001134888.3

p.P454_Y455insAGA

c.1360_1364ins9

2 papers

NM_001134888.3

p.A920V

c.2759C>T

2 papers

NM_001134888.3

p.R1114W

c.3340C>T

2 papers

NM_001134888.3

p.R1122H

c.3365G>A

2 papers

NM_001134888.3

p.P1212S

c.3634C>T

2 papers

NM_001134888.3

p.V1225I

c.3673G>A

1 paper

NM_001134888.3

p.S5Y

c.14C>A

1 paper

NM_001134888.3

p.T11M

c.32C>T