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.N702_Q703ins6

c.2104_2108ins18

Surrounding Variants

1 paper

NM_020975.6

p.N702T

c.2105A>C

1 paper

NM_020975.6

p.E701E

c.2103G>A

1 paper

NM_020975.6

p.E701G

c.2102A>G

1 paper

NM_020975.6

p.Q703E

c.2107C>G

1 paper

NM_020975.6

p.E701K

c.2101G>A

2 papers

NM_020975.6

p.Q703H

c.2109G>C

2 papers

NM_020975.6

p.Q703H

c.2109G>T

2 papers

NM_020975.6

p.M700T

c.2099T>C

2 papers

NM_020975.6

p.M700L

c.2098A>C

1 paper

NM_020975.6

p.M700V

c.2098A>G

4 papers

NM_020975.6

p.M700L

c.2098A>T

3 papers

NM_020975.6

p.V704F

c.2110G>T