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.F220L

c.658T>C

Surrounding Variants

1 paper

NM_198570.5

p.F220L

c.660C>A

1 paper

NM_198570.5

p.F220L

c.660C>G

1 paper

NM_198570.5

p.G222D

c.665G>A

1 paper

NM_198570.5

p.N216K

c.648C>A

1 paper

NM_198570.5

p.N216K

c.648C>G

1 paper

NM_198570.5

p.T224_T227del4

c.670_680del12

1 paper

NM_198570.5

p.T227I

c.680C>T

1 paper

NM_198570.5

p.L228F

c.684G>C

1 paper

NM_198570.5

p.L228F

c.684G>T

1 paper

NM_198570.5

p.L195Q

c.584T>A

1 paper

NM_198570.5

p.P190fs

c.568_569fs

1 paper

NM_198570.5

p.C176F

c.527G>T