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

5 papers

NM_000179.3

p.W50*

c.150G>A

Surrounding Variants

1 paper

NM_000179.3

p.W50C

c.150G>C

1 paper

NM_000179.3

p.W50C

c.150G>T

1 paper

NM_000179.3

p.S51Fs

c.151delinsAACFs

1 paper

NM_000179.3

p.S51fs

c.151_152fs

5 papers

NM_000179.3

p.W50*

c.149G>A

1 paper

NM_000179.3

p.W50L

c.149G>T

3 papers

NM_000179.3

p.W50R

c.148T>A

3 papers

NM_000179.3

p.W50R

c.148T>C

2 papers

NM_000179.3

p.A49A

c.147C>G

1 paper

NM_000179.3

p.A49A

c.147C>T

1 paper

NM_000179.3

p.S51S

c.153C>T

1 paper

NM_000179.3

p.A49D

c.146C>A