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

11 papers

NM_020975.6

p.A919P

c.2755G>C

Surrounding Variants

3 papers

NM_020975.6

p.A919S

c.2755G>T

9 papers

NM_020975.6

p.A919V

c.2756C>T

2 papers

NM_020975.6

p.M918I

c.2754G>A

2 papers

NM_020975.6

p.M918I

c.2754G>C

2 papers

NM_020975.6

p.M918I

c.2754G>T

1 paper

NM_020975.6

p.A919A

c.2757A>G

1 paper

NM_020975.6

p.M918K

c.2753T>A

1255 papers

NM_020975.6

p.M918T

c.2753T>C

3 papers

NM_020975.6

p.M918L

c.2752A>C

32 papers

NM_020975.6

p.M918V

c.2752A>G

3 papers

NM_020975.6

p.M918L

c.2752A>T

1 paper

NM_020975.6

p.M918delins

c.2752_2753delinsTG