Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_000179.3

p.W372*

c.1116G>A

NM_001281492.2

p.W242*

c.726G>A

Surrounding Variants

7 papers

NM_000179.3

p.W372*

c.1115G>A

NM_001281492.2

p.W242*

c.725G>A

2 papers

NM_000179.3

p.W372R

c.1114T>A

2 papers

NM_000179.3

p.W372R

c.1114T>C

1 paper

NM_000179.3

p.L373P

c.1118T>C

2 papers

NM_000179.3

p.K374del1

c.1120_1121delAAG

1 paper

NM_000179.3

p.K374E

c.1120A>G

1 paper

NM_000179.3

p.K374insFs

c.1121_1122ins5

1 paper

NM_000179.3

p.K374T

c.1121A>C

2 papers

NM_000179.3

p.K374R

c.1121A>G

1 paper

NM_000179.3

p.E375_R384del10

c.1123_1151del30

1 paper

NM_000179.3

p.E375K

c.1123G>A

1 paper

NM_000179.3

p.E375_E376insGTC

c.1123_1127ins9