Varaico: Literature-Extracted Genetic Variants

MUC21

102 papers

RefSeq Summary

This gene encodes a large membrane-bound glycoprotein which is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epi...

Pfam Domains

Epiglycanin_TRaa 17–77UCSCTandem-repeating region of mucin, epiglycanin-like

Epiglycanin_TRaa 76–138UCSCTandem-repeating region of mucin, epiglycanin-like

Epiglycanin_TRaa 122–181UCSCTandem-repeating region of mucin, epiglycanin-like

Epiglycanin_TRaa 166–226UCSCTandem-repeating region of mucin, epiglycanin-like

Epiglycanin_TRaa 212–272UCSCTandem-repeating region of mucin, epiglycanin-like

Epiglycanin_TRaa 316–376UCSCTandem-repeating region of mucin, epiglycanin-like

Gene Aliases

HGNC Name

mucin 21, cell surface associated

HGNC Previous Symbol

C6orf205

Papers

RefSeq ID

Protein change

DNA change

1–12 of 171 variants

5 papers

NM_001010909.5

p.V98A

c.293T>C

5 papers

NM_001010909.5

p.G253S

c.757G>A

5 papers

NM_001010909.5

p.E349D

c.1047G>C

5 papers

NM_001010909.5

p.E349D

c.1047G>T

4 papers

NM_001010909.5

p.E184D

c.552G>C

4 papers

NM_001010909.5

p.E184D

c.552G>T

4 papers

NM_001010909.5

p.V188M

c.562G>A

4 papers

NM_001010909.5

p.R191G

c.571A>G

4 papers

NM_001010909.5

p.R216S

c.648A>C

4 papers

NM_001010909.5

p.R216S

c.648A>T

4 papers

NM_001010909.5

p.P248fs

c.742_743fs

3 papers

NM_001010909.5

p.A135ins15

c.403_404ins45