Varaico: Literature-Extracted Genetic Variants

MUC2

347 papers

RefSeq Summary

This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an in...

Pfam Domains

VWDaa 37–186UCSCvon Willebrand factor type D domain

C8aa 224–292UCSCC8 domain

TILaa 295–351UCSCTrypsin Inhibitor like cysteine rich domain

VWFaa 358–385UCSCVon Willebrand factor-like domain

VWDaa 391–545UCSCvon Willebrand factor type D domain

C8aa 587–656UCSCC8 domain

Gene Aliases

HGNC Name

mucin 2, oligomeric mucus/gel-forming

HGNC Alias Symbols

MLP; MUC-2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002457.5

p.T1527P

c.4579A>C

Surrounding Variants

1 paper

NM_002457.5

p.P1526L

c.4577C>T

1 paper

NM_002457.5

p.T1528P

c.4582A>C

1 paper

NM_002457.5

p.T1530ins8

c.4589_4590ins24

1 paper

NM_002457.5

p.P1525delFs

c.4574_4575delCT

1 paper

NM_002457.5

p.P1525del1

c.4573_4574delCCT

1 paper

NM_002457.5

p.S1524N

c.4571G>A

1 paper

NM_002457.5

p.T1531P

c.4591A>C

2 papers

NM_002457.5

p.P1523S

c.4567C>T

1 paper

NM_002457.5

p.T1532S

c.4594A>T

1 paper

NM_002457.5

p.T1532S

c.4595C>G

1 paper

NM_002457.5

p.T1532T

c.4596C>A

1 paper

NM_002457.5

p.T1537P

c.4609A>C