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

5 papers

NM_000179.3

p.I258T

c.773T>C

Surrounding Variants

1 paper

NM_000179.3

p.G259_G260del1

c.777_779delTGG

1 paper

NM_000179.3

p.G259insFs

c.776dupG

1 paper

NM_000179.3

p.G259delFs

c.776delG

1 paper

NM_000179.3

p.G259_E272del14

c.775_815del42

1 paper

NM_000179.3

p.D257A

c.770A>C

1 paper

NM_000179.3

p.D257G

c.770A>G

1 paper

NM_000179.3

p.G259D

c.776G>A

1 paper

NM_000179.3

p.D257insFs

c.770dupA

2 papers

NM_000179.3

p.D257Y

c.769G>T

1 paper

NM_000179.3

p.G260del1

c.778_779delGGC

1 paper

NM_000179.3

p.G260S

c.778G>A

1 paper

NM_000179.3

p.G260fs

c.778_779fs