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.P715T

c.2143C>A

Surrounding Variants

1 paper

NM_020975.6

p.P715fs

c.2143_2144fs

2 papers

NM_020975.6

p.P715S

c.2143C>T

1 paper

NM_020975.6

p.D714A

c.2141A>C

1 paper

NM_020975.6

p.D714Y

c.2140G>T

2 papers

NM_020975.6

p.E713D

c.2139G>C

2 papers

NM_020975.6

p.E713D

c.2139G>T

1 paper

NM_020975.6

p.K716N

c.2148G>C

1 paper

NM_020975.6

p.K716N

c.2148G>T

1 paper

NM_020975.6

p.E713K

c.2137G>A

1 paper

NM_020975.6

p.E713fs

c.2137_2138fs

1 paper

NM_020975.6

p.W717L

c.2150G>T

1 paper

NM_020975.6

p.L712_E713Splc

c.2137-2A>C