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.C531S

c.1592G>C

Surrounding Variants

17 papers

NM_020975.6

p.C531R

c.1591T>C

1 paper

NM_020975.6

p.G532_G535del4

c.1594_1604del12

1 paper

NM_020975.6

p.G532C

c.1594G>T

1 paper

NM_020975.6

p.G532V

c.1595G>T

3 papers

NM_020975.6

p.G532G

c.1596C>T

1 paper

NM_020975.6

p.E530*

c.1588G>T

12 papers

NM_020975.6

p.G533S

c.1597G>A

127 papers

NM_020975.6

p.G533C

c.1597G>T

1 paper

NM_020975.6

p.C528W

c.1584T>G

1 paper

NM_020975.6

p.C528Y

c.1583G>A

1 paper

NM_020975.6

p.C528S

c.1583G>C

2 papers

NM_020975.6

p.L534L

c.1602G>T