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.S602delFs

c.1804_1805delTC

Surrounding Variants

1 paper

NM_000179.3

p.N600T

c.1799A>C

1 paper

NM_000179.3

p.N600S

c.1799A>G

2 papers

NM_000179.3

p.L601V

c.1801C>G

1 paper

NM_000179.3

p.L601H

c.1802T>A

1 paper

NM_000179.3

p.G599R

c.1795G>A

1 paper

NM_000179.3

p.G599R

c.1795G>C

2 papers

NM_000179.3

p.G599fs

c.1795_1796fs

1 paper

NM_000179.3

p.G599*

c.1795G>T

1 paper

NM_000179.3

p.G599fs

c.1795_1796fs

1 paper

NM_000179.3

p.S602insFs

c.1804_1805insA

4 papers

NM_000179.3

p.S602fs

c.1804_1805fs

4 papers

NM_000179.3

p.S602fs

c.1804_1805fs