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

2 papers

NM_020975.6

p.S173P

c.517T>C

Surrounding Variants

1 paper

NM_020975.6

p.S173C

c.518C>G

1 paper

NM_020975.6

p.P172H

c.515C>A

2 papers

NM_020975.6

p.P172S

c.514C>T

2 papers

NM_020975.6

p.F174L

c.520T>C

8 papers

NM_020975.6

p.F174S

c.521T>C

1 paper

NM_020975.6

p.R175del1

c.523_524delCGC

2 papers

NM_020975.6

p.F174L

c.522C>A

2 papers

NM_020975.6

p.F174L

c.522C>G

1 paper

NM_020975.6

p.F174F

c.522C>T

1 paper

NM_020975.6

p.R171M

c.512G>T

1 paper

NM_020975.6

p.R171insFs

c.512_513ins4

1 paper

NM_020975.6

p.R171W

c.511A>T