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

4 papers

NM_000179.3

p.A1021D

c.3062C>A

Surrounding Variants

3 papers

NM_000179.3

p.E1022*

c.3064G>T

1 paper

NM_000179.3

p.N1020S

c.3059A>G

2 papers

NM_000179.3

p.N1020D

c.3058A>G

2 papers

NM_000179.3

p.E1023*

c.3067G>T

1 paper

NM_000179.3

p.E1023G

c.3068A>G

3 papers

NM_000179.3

p.I1019L

c.3055A>C

1 paper

NM_000179.3

p.I1019V

c.3055A>G

2 papers

NM_000179.3

p.I1019L

c.3055A>T

5 papers

NM_000179.3

p.R1024W

c.3070C>T

1 paper

NM_000179.3

p.I1019delFs

c.3056_3057delTA

6 papers

NM_000179.3

p.R1024Q

c.3071G>A

1 paper

NM_000179.3

p.L1018fs

c.3052_3053fs