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

1–12 of 56 variants

4 papers

NM_030933.4

p.S18R

c.52A>C

4 papers

NM_030933.4

p.S18R

c.54C>G

4 papers

NM_030933.4

p.S18R

c.54C>A

3 papers

NM_030933.4

p.L68M

c.202C>A

3 papers

NM_030933.4

p.V491M

c.1471G>A

2 papers

NM_030933.4

p.I249T

c.746T>C

2 papers

NM_030933.4

p.G420R

c.1258G>C

2 papers

NM_030933.4

p.G420R

c.1258G>A

2 papers

NM_030933.4

p.V447A

c.1340T>C

1 paper

NM_030933.4

p.R22*

c.64C>T

1 paper

NM_030933.4

p.A44A

c.132G>A

1 paper

NM_030933.4

p.T65M

c.194C>T