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.I1019V

c.3055A>G

Surrounding Variants

3 papers

NM_000179.3

p.I1019L

c.3055A>C

2 papers

NM_000179.3

p.I1019L

c.3055A>T

1 paper

NM_000179.3

p.I1019delFs

c.3056_3057delTA

2 papers

NM_000179.3

p.N1020D

c.3058A>G

1 paper

NM_000179.3

p.L1018fs

c.3052_3053fs

2 papers

NM_000179.3

p.L1018F

c.3052C>T

1 paper

NM_000179.3

p.L1018delFs

c.3053delT

3 papers

NM_000179.3

p.L1018fs

c.3052_3053fs

1 paper

NM_000179.3

p.N1020S

c.3059A>G

1 paper

NM_000179.3

p.L1018_I1019del2

c.3052_3056del6

6 papers

NM_000179.3

p.L1018delFs

c.3052_3053delCT

1 paper

NM_000179.3

p.N1017fs

c.3049_3050fs