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

3 papers

NM_020975.6

p.P622L

c.1865C>T

Surrounding Variants

13 papers

NM_020975.6

p.E623K

c.1867G>A

2 papers

NM_020975.6

p.E621E

c.1863G>A

3 papers

NM_020975.6

p.E623*

c.1867G>T

1 paper

NM_020975.6

p.E623G

c.1868A>G

1 paper

NM_020975.6

p.E621V

c.1862A>T

2 papers

NM_020975.6

p.E621K

c.1861G>A

11 papers

NM_020975.6

p.C620*

c.1860C>A

27 papers

NM_020975.6

p.C620W

c.1860C>G

2 papers

NM_020975.6

p.C620C

c.1860C>T

1 paper

NM_020975.6

p.D624G

c.1871A>G

53 papers

NM_020975.6

p.C620Y

c.1859G>A

86 papers

NM_020975.6

p.C620S

c.1859G>C