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.K149T

c.446A>C

Surrounding Variants

1 paper

NM_000179.3

p.K149*

c.445A>T

2 papers

NM_000179.3

p.K149fs

c.445_446fs

2 papers

NM_000179.3

p.P150L

c.449C>T

1 paper

NM_000179.3

p.L148*

c.443T>A

1 paper

NM_000179.3

p.L148*

c.443T>G

1 paper

NM_000179.3

p.P150_Y151ins1

c.450_451insAGT

1 paper

NM_000179.3

p.L148I

c.442T>A

1 paper

NM_000179.3

p.L148fs

c.442_443fs

1 paper

NM_000179.3

p.Y151delFs

c.452delA

2 papers

NM_000179.3

p.Y151insFs

c.453dupT

2 papers

NM_000179.3

p.Y151C

c.452A>G

4 papers

NM_000179.3

p.L147H

c.440T>A