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

20 papers

NM_000179.3

p.R922*

c.2764C>T

Surrounding Variants

1 paper

NM_000179.3

p.R922fs

c.2764_2765fs

2 papers

NM_000179.3

p.R922delFs

c.2765delG

13 papers

NM_000179.3

p.R922Q

c.2765G>A

1 paper

NM_000179.3

p.K923insFs

c.2768dupA

1 paper

NM_000179.3

p.K923delFs

c.2768delA

2 papers

NM_000179.3

p.A921T

c.2761G>A

1 paper

NM_000179.3

p.A921fs

c.2761_2762fs

1 paper

NM_000179.3

p.A921_R922delFs

c.2763_2764delTC

1 paper

NM_000179.3

p.K923K

c.2769G>A

1 paper

NM_000179.3

p.K920insFs

c.2758_2759insCC

2 papers

NM_000179.3

p.K920fs

c.2758_2759fs

1 paper

NM_000179.3

p.T924fs

c.2770_2771fs