Varaico: Literature-Extracted Genetic Variants

VWC2

43 papers

RefSeq Summary

This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, ...

Pfam Domains

VWC2L_1staa 153–192UCSCVWC2L-like, N-terminal domain

VWC2L_2ndaa 218–272UCSCVWC2L-like domain

VWC2L_Caa 278–321UCSCVWC2L, C-terminal domain

Gene Aliases

HGNC Name

von Willebrand factor C domain containing 2

HGNC Alias Symbols

PSST739; UNQ739

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198570.5

p.W90*

c.269G>A

Surrounding Variants

1 paper

NM_198570.5

p.D75_W76delFs

c.224_227del4

1 paper

NM_198570.5

p.D108fs

c.322_323fs

1 paper

NM_198570.5

p.R114C

c.340C>T

1 paper

NM_198570.5

p.R64C

c.190C>T

3 papers

NM_198570.5

p.A120G

c.359C>G

1 paper

NM_198570.5

p.A51A

c.153C>G

2 papers

NM_198570.5

p.P40P

c.120A>G

3 papers

NM_198570.5

p.P148L

c.443C>T

2 papers

NM_198570.5

p.P29R

c.86C>G

1 paper

NM_198570.5

p.V162M

c.484G>A

1 paper

NM_198570.5

p.Y163C

c.488A>G

1 paper

NM_198570.5

p.S174S

c.522G>A