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.T1008A

c.3022A>G

Surrounding Variants

1 paper

NM_000179.3

p.T1008N

c.3023C>A

9 papers

NM_000179.3

p.T1008I

c.3023C>T

7 papers

NM_000179.3

p.W1007*

c.3021G>A

1 paper

NM_000179.3

p.W1007C

c.3021G>T

1 paper

NM_000179.3

p.T1008T

c.3024C>T

1 paper

NM_000179.3

p.T1010delFs

c.3028delA

1 paper

NM_000179.3

p.K1009del1

c.3025_3026delAAA

7 papers

NM_000179.3

p.W1007*

c.3020G>A

1 paper

NM_000179.3

p.W1007insFs

c.3020_3021insC

1 paper

NM_000179.3

p.W1007_T1008delFs

c.3021_3022delGA

1 paper

NM_000179.3

p.K1009fs

c.3025_3026fs

1 paper

NM_000179.3

p.W1007R

c.3019T>C