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.L773fs

c.2317_2318fs

Surrounding Variants

1 paper

NM_020975.6

p.L773ins1

c.2318_2319insACA

1 paper

NM_020975.6

p.L773_S774ins1

c.2319_2320insCAG

1 paper

NM_020975.6

p.L773delFs

c.2319delG

1 paper

NM_020975.6

p.L773_S774ins3

c.2319_2320ins9

1 paper

NM_020975.6

p.L773_S774ins1

c.2319_2320insTAC

1 paper

NM_020975.6

p.L772M

c.2314C>A

2 papers

NM_020975.6

p.D771E

c.2313C>A

2 papers

NM_020975.6

p.S774*

c.2321C>A

1 paper

NM_020975.6

p.L772_L773ins0

c.2314_2319dup6

2 papers

NM_020975.6

p.D771E

c.2313C>G

2 papers

NM_020975.6

p.S774*

c.2321C>G

1 paper

NM_020975.6

p.S774delFs

c.2322delA