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.R901S

c.2701C>A

Surrounding Variants

2 papers

NM_000179.3

p.R901C

c.2701C>T

7 papers

NM_000179.3

p.R901H

c.2702G>A

1 paper

NM_000179.3

p.G900_R901insG

c.2698_2702ins3

2 papers

NM_000179.3

p.G900_R901insTC

c.2698_2702ins6

1 paper

NM_000179.3

p.G900_R901del2

c.2698_2702del6

1 paper

NM_000179.3

p.G900_P903del4

c.2698_2708del12

1 paper

NM_000179.3

p.P903L

c.2708C>T

1 paper

NM_000179.3

p.P898H

c.2693C>A

1 paper

NM_000179.3

p.P898T

c.2692C>A

1 paper

NM_000179.3

p.P898fs

c.2692_2693fs

1 paper

NM_000179.3

p.P898_E899insG

c.2692_2696ins3

1 paper

NM_000179.3

p.P898S

c.2692C>T