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.M868I

c.2604G>T

Surrounding Variants

1 paper

NM_020975.6

p.M868I

c.2604G>A

1 paper

NM_020975.6

p.M868I

c.2604G>C

1 paper

NM_020975.6

p.K869delFs

c.2606delA

1 paper

NM_020975.6

p.K869fs

c.2605_2606fs

4 papers

NM_020975.6

p.E867D

c.2601G>C

4 papers

NM_020975.6

p.E867D

c.2601G>T

1 paper

NM_020975.6

p.E867A

c.2600A>C

2 papers

NM_020975.6

p.E867K

c.2599G>A

1 paper

NM_020975.6

p.E867*

c.2599G>T

1 paper

NM_020975.6

p.K869_L870Splc

c.2607+2T>C

1 paper

NM_020975.6

p.K869_L870Splc

c.2607+3G>A

1 paper

NM_020975.6

p.A866V

c.2597C>T