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.E209_V210Splc

c.628-8C>T

Surrounding Variants

3 papers

NM_000179.3

p.E209_V210Splc

c.628-7C>A

1 paper

NM_000179.3

p.E209_V210Splc

c.628-4G>C

1 paper

NM_000179.3

p.E209_V210Splc

c.628-3C>A

1 paper

NM_000179.3

p.E209_V210Splc

c.628-2A>G

2 papers

NM_000179.3

p.E209_V210Splc

c.628-1G>A

1 paper

NM_000179.3

p.V210L

c.628G>T

1 paper

NM_000179.3

p.V210fs

c.628_629fs

2 papers

NM_000179.3

p.V210A

c.629T>C

1 paper

NM_000179.3

p.G211_T212delFs

c.631_634del4

1 paper

NM_000179.3

p.G211S

c.631G>A

1 paper

NM_000179.3

p.G211fs

c.631_632fs

1 paper

NM_000179.3

p.G211D

c.632G>A