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

2 papers

NM_000179.3

p.Q1314fs

c.3940_3941fs

Surrounding Variants

6 papers

NM_000179.3

p.Q1314*

c.3940C>T

1 paper

NM_000179.3

p.Q1314fs

c.3940_3941fs

1 paper

NM_000179.3

p.G1316_A1320delFs

c.3946_3958del13

1 paper

NM_000179.3

p.Q1314insFs

c.3941_3942insTC

1 paper

NM_000179.3

p.I1313_Q1314insFs

c.3939_3940ins19

2 papers

NM_000179.3

p.I1313T

c.3938T>C

3 papers

NM_000179.3

p.I1313_Q1314insFs

c.3939_3940dupTC

2 papers

NM_000179.3

p.I1313insFs

c.3938_3939ins8

17 papers

NM_000179.3

p.I1313_K1319insFs

c.3939_3957dup19

1 paper

NM_000179.3

p.I1313_K1319delFs

c.3939_3957del19

3 papers

NM_000179.3

p.I1313fs

c.3937_3938fs

1 paper

NM_000179.3

p.K1315fs

c.3943_3944fs