Varaico: Literature-Extracted Genetic Variants

SHCBP1L

49 papers

RefSeq Summary

This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during mei...

Pfam Domains

SHCBP_Naa 121–359UCSCSHCBP N-terminal domain

Beta_helixaa 486–653UCSCRight handed beta helix region

Gene Aliases

HGNC Name

SHC binding and spindle associated 1 like

HGNC Previous Names

chromosome 1 open reading frame 14; SHC SH2-domain binding protein 1-like

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030933.4

p.M394_I395Splc

c.1183-4658T>C

Surrounding Variants

1 paper

NM_030933.4

p.M394_I395Splc

c.1183-8297T>C

1 paper

NM_030933.4

p.L403L

c.1209T>A

2 papers

NM_030933.4

p.G420R

c.1258G>C

2 papers

NM_030933.4

p.G420R

c.1258G>A

1 paper

NM_030933.4

p.G446G

c.1338A>G

2 papers

NM_030933.4

p.V447A

c.1340T>C

1 paper

NM_030933.4

p.S478Y

c.1433C>A

1 paper

NM_030933.4

p.T484M

c.1451C>T

3 papers

NM_030933.4

p.V491M

c.1471G>A

1 paper

NM_030933.4

p.G507A

c.1520G>C

1 paper

NM_030933.4

p.G532D

c.1595G>A