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.F573fs

c.1717_1718fs

Surrounding Variants

2 papers

NM_000179.3

p.Q572H

c.1716G>C

2 papers

NM_000179.3

p.Q572H

c.1716G>T

1 paper

NM_000179.3

p.F573delFs

c.1717delT

1 paper

NM_000179.3

p.F573S

c.1718T>C

4 papers

NM_000179.3

p.Q572*

c.1714C>T

2 papers

NM_000179.3

p.S574T

c.1720T>A

1 paper

NM_000179.3

p.S574delFs

c.1721delC

1 paper

NM_000179.3

p.S574*

c.1721C>A

1 paper

NM_000179.3

p.S574*

c.1721C>G

3 papers

NM_000179.3

p.S574L

c.1721C>T

2 papers

NM_000179.3

p.G571D

c.1712G>A

1 paper

NM_000179.3

p.D575N

c.1723G>A