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.I891S

c.2672T>G

Surrounding Variants

1 paper

NM_000179.3

p.I891_S892Fs

c.2672_2674delinsCFs

2 papers

NM_000179.3

p.I891fs

c.2671_2672fs

4 papers

NM_000179.3

p.I891delFs

c.2672delT

11 papers

NM_000179.3

p.L893delFs

c.2677_2678delCT

2 papers

NM_000179.3

p.I891M

c.2673C>G

4 papers

NM_000179.3

p.S892delFs

c.2674delT

1 paper

NM_000179.3

p.S892F

c.2675C>T

3 papers

NM_000179.3

p.V890F

c.2668G>T

2 papers

NM_000179.3

p.L893fs

c.2677_2678fs

1 paper

NM_000179.3

p.L893V

c.2677C>G

4 papers

NM_000179.3

p.L893fs

c.2677_2678fs

6 papers

NM_000179.3

p.Q889H

c.2667G>C