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.R635L

c.1904G>T

Surrounding Variants

6 papers

NM_020975.6

p.R635H

c.1904G>A

8 papers

NM_020975.6

p.R635G

c.1903C>G

10 papers

NM_020975.6

p.R635C

c.1903C>T

1 paper

NM_020975.6

p.T636_V637insFs

c.1908_1909ins5

6 papers

NM_020975.6

p.T636P

c.1906A>C

1 paper

NM_020975.6

p.T636S

c.1906A>T

23 papers

NM_020975.6

p.C634*

c.1902C>A

327 papers

NM_020975.6

p.C634W

c.1902C>G

2 papers

NM_020975.6

p.C634C

c.1902C>T

1 paper

NM_020975.6

p.T636R

c.1907C>G

19 papers

NM_020975.6

p.T636M

c.1907C>T

420 papers

NM_020975.6

p.C634Y

c.1901G>A