Varaico: Literature-Extracted Genetic Variants

MUC16

488 papers

RefSeq Summary

This gene encodes a protein that is a member of the mucin family. Mucins are high molecular weight, O-glycosylated proteins that play an important role in forming a protective mucous barrier, and are ...

Pfam Domains

SEAaa 12136–12244UCSCSEA domain

SEAaa 12292–12400UCSCSEA domain

SEAaa 12450–12558UCSCSEA domain

SEAaa 12606–12714UCSCSEA domain

SEAaa 12761–12869UCSCSEA domain

SEAaa 12917–13025UCSCSEA domain

Gene Aliases

HGNC Name

mucin 16, cell surface associated

HGNC Alias Symbols

CA125; FLJ14303; CA-125

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001401501.2

p.N2254delFs

c.6762delA

Surrounding Variants

5 papers

NM_001401501.2

p.T2271A

c.6811A>G

1 paper

NM_001401501.2

p.T2217S

c.6650C>G

1 paper

NM_001401501.2

p.T2217S

c.6649A>T

1 paper

NM_001401501.2

p.L2209L

c.6625T>C

1 paper

NM_001401501.2

p.S2201T

c.6601T>A

1 paper

NM_001401501.2

p.T2191N

c.6572C>A

1 paper

NM_001401501.2

p.E2323*

c.6967G>T

1 paper

NM_001401501.2

p.P2175_V2184del0

c.6523_6552del30

1 paper

NM_001401501.2

p.N2162_T2163delFs

c.6486_6489del4

1 paper

NM_001401501.2

p.S2348G

c.7042A>G

1 paper

NM_001401501.2

p.H2151Q

c.6453T>G

1 paper

NM_001401501.2

p.P2364fs

c.7090_7091fs