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.L862_E863del2

c.2584_2588del6

Surrounding Variants

1 paper

NM_000179.3

p.A861S

c.2581G>T

1 paper

NM_000179.3

p.A861_G864del4

c.2581_2591del12

5 papers

NM_000179.3

p.S860F

c.2579C>T

2 papers

NM_000179.3

p.E863G

c.2588A>G

1 paper

NM_000179.3

p.G864R

c.2590G>A

2 papers

NM_000179.3

p.G864*

c.2590G>T

1 paper

NM_000179.3

p.L859fs

c.2575_2576fs

1 paper

NM_000179.3

p.L859F

c.2575C>T

1 paper

NM_000179.3

p.G864E

c.2591G>A

1 paper

NM_000179.3

p.F865L

c.2593T>C

1 paper

NM_000179.3

p.F858C

c.2573T>G

1 paper

NM_000179.3

p.F865C

c.2594T>G