Varaico: Literature-Extracted Genetic Variants

RET

5,388 papers

RefSeq Summary

This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related...

Pfam Domains

RET_CLD1aa 29–154UCSCRET Cadherin like domain 1

Cadherinaa 172–261UCSCCadherin domain

RET_CLD3aa 265–379UCSCRET Cadherin like domain 3

RET_CLD4aa 282–375UCSCRET Cadherin like domain 4

RET_CLD4aa 404–507UCSCRET Cadherin like domain 4

RET_CRDaa 518–620UCSCRET, Cysteine Rich Domain

Gene Aliases

HGNC Name

ret proto-oncogene

HGNC Previous Symbols

HSCR1; MEN2A; MTC1; MEN2B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020975.6

p.E615D

c.1845G>C

Surrounding Variants

1 paper

NM_020975.6

p.E615D

c.1845G>T

2 papers

NM_020975.6

p.E616K

c.1846G>A

3 papers

NM_020975.6

p.E616Q

c.1846G>C

4 papers

NM_020975.6

p.E615K

c.1843G>A

1 paper

NM_020975.6

p.E615fs

c.1843_1844fs

1 paper

NM_020975.6

p.E616D

c.1848G>C

1 paper

NM_020975.6

p.E616D

c.1848G>T

1 paper

NM_020975.6

p.E614K

c.1840G>A

2 papers

NM_020975.6

p.E614*

c.1840G>T

2 papers

NM_020975.6

p.K617N

c.1851G>C

1 paper

NM_020975.6

p.K617N

c.1851G>T

8 papers

NM_020975.6

p.E616del1

c.1846_1847delGAG