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

1 paper

NM_000179.3

p.P590L

c.1769C>T

Surrounding Variants

1 paper

NM_000179.3

p.P590H

c.1769C>A

2 papers

NM_000179.3

p.P590A

c.1768C>G

1 paper

NM_000179.3

p.P590P

c.1770C>G

1 paper

NM_000179.3

p.P590P

c.1770C>T

1 paper

NM_000179.3

p.P591fs

c.1771_1772fs

3 papers

NM_000179.3

p.P591S

c.1771C>T

1 paper

NM_000179.3

p.P591fs

c.1771_1772fs

1 paper

NM_000179.3

p.Y589*

c.1767T>A

1 paper

NM_000179.3

p.Y589*

c.1767T>G

1 paper

NM_000179.3

p.P590insFs

c.1770dupC

3 papers

NM_000179.3

p.P591delFs

c.1772delC

1 paper

NM_000179.3

p.Y589C

c.1766A>G