Varaico: Literature-Extracted Genetic Variants

Gene:SH2B3
Variant:p.L535delFs

SH2B3

633 papers

RefSeq Summary

This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative ...

Pfam Domains

Phe_ZIPaa 25–80UCSCPhenylalanine zipper
SH2aa 364–441UCSCSH2 domain

Gene Aliases

HGNC Name

SH2B adaptor protein 3

HGNC Alias Symbols

LNK; IDDM20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005475.3
p.L535delFs
c.1605delG
Surrounding Variants
1 paper
NM_005475.3
p.L535fs
c.1603_1604fs
1 paper
NM_005475.3
p.L535V
c.1603C>G
1 paper
NM_005475.3
p.L535L
c.1605G>C
10 papers
NM_005475.3
p.A536T
c.1606G>A
1 paper
NM_005475.3
p.A536A
c.1608C>T
2 papers
NM_005475.3
p.E533K
c.1597G>A
1 paper
NM_005475.3
p.S531S
c.1593G>A
2 papers
NM_005475.3
p.Q540*
c.1618C>T
4 papers
NM_005475.3
p.H541Y
c.1621C>T
1 paper
NM_005475.3
p.L542_N548del7
c.1624_1643del21
1 paper
NM_005475.3
p.L542R
c.1625T>G
4 papers
NM_005475.3
p.E543del1
c.1627_1628delGAG
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