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.A34P

c.100G>C

Surrounding Variants

2 papers

NM_000179.3

p.A34T

c.100G>A

3 papers

NM_000179.3

p.A34S

c.100G>T

1 paper

NM_000179.3

p.A34fs

c.100_101fs

2 papers

NM_000179.3

p.A34V

c.101C>T

2 papers

NM_000179.3

p.A34A

c.102C>A

2 papers

NM_000179.3

p.R33H

c.98G>A

1 paper

NM_000179.3

p.R33P

c.98G>C

1 paper

NM_000179.3

p.R33L

c.98G>T

1 paper

NM_000179.3

p.R33fs

c.97_98fs

1 paper

NM_000179.3

p.R33_A34ins6

c.97_101ins18

2 papers

NM_000179.3

p.R33G

c.97C>G

1 paper

NM_000179.3

p.R33C

c.97C>T