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.Q681H

c.2043G>C

Surrounding Variants

1 paper

NM_020975.6

p.Q681H

c.2043G>T

3 papers

NM_020975.6

p.Q681E

c.2041C>G

4 papers

NM_020975.6

p.Q681*

c.2041C>T

1 paper

NM_020975.6

p.Q681fs

c.2041_2042fs

1 paper

NM_020975.6

p.A682A

c.2046C>G

1 paper

NM_020975.6

p.A680G

c.2039C>G

10 papers

NM_020975.6

p.A680T

c.2038G>A

1 paper

NM_020975.6

p.A680S

c.2038G>T

1 paper

NM_020975.6

p.A680delFs

c.2040delC

6 papers

NM_020975.6

p.P679P

c.2037C>T

1 paper

NM_020975.6

p.P679R

c.2036C>G

2 papers

NM_020975.6

p.P679L

c.2036C>T