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.K907N

c.2721G>T

Surrounding Variants

1 paper

NM_020975.6

p.K907N

c.2721G>C

5 papers

NM_020975.6

p.K907T

c.2720A>C

5 papers

NM_020975.6

p.K907M

c.2720A>T

1 paper

NM_020975.6

p.K907Q

c.2719A>C

19 papers

NM_020975.6

p.K907E

c.2719A>G

5 papers

NM_020975.6

p.R908K

c.2723G>A

3 papers

NM_020975.6

p.V906M

c.2716G>A

1 paper

NM_020975.6

p.S909N

c.2726G>A

27 papers

NM_020975.6

p.Y905F

c.2714A>T

2 papers

NM_020975.6

p.Q910*

c.2728C>T

1 paper

NM_020975.6

p.Q910R

c.2729A>G

1 paper

NM_020975.6

p.Q910L

c.2729A>T