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.R1024W

c.3070C>T

Surrounding Variants

6 papers

NM_000179.3

p.R1024Q

c.3071G>A

1 paper

NM_000179.3

p.E1023G

c.3068A>G

1 paper

NM_000179.3

p.R1024R

c.3072G>A

1 paper

NM_000179.3

p.R1024_R1025insFs

c.3072_3073ins4

2 papers

NM_000179.3

p.R1025insFs

c.3074_3075ins4

1 paper

NM_000179.3

p.R1025G

c.3073A>G

1 paper

NM_000179.3

p.R1025W

c.3073A>T

2 papers

NM_000179.3

p.E1023*

c.3067G>T

1 paper

NM_000179.3

p.R1025_D1026insFs

c.3075_3076insC

1 paper

NM_000179.3

p.D1026N

c.3076G>A

1 paper

NM_000179.3

p.D1026fs

c.3076_3077fs

3 papers

NM_000179.3

p.E1022*

c.3064G>T