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.T486I

c.1457C>T

Surrounding Variants

1 paper

NM_000179.3

p.T486N

c.1457C>A

3 papers

NM_000179.3

p.T486_E487delFs

c.1458_1459delTG

1 paper

NM_000179.3

p.T486T

c.1458T>C

2 papers

NM_000179.3

p.E487K

c.1459G>A

1 paper

NM_000179.3

p.E487fs

c.1459_1460fs

3 papers

NM_000179.3

p.Q485R

c.1454A>G

2 papers

NM_000179.3

p.T486_E487delFs

c.1457_1460del4

2 papers

NM_000179.3

p.Q485K

c.1453C>A

1 paper

NM_000179.3

p.Q485E

c.1453C>G

4 papers

NM_000179.3

p.Q485*

c.1453C>T

1 paper

NM_000179.3

p.E487D

c.1461G>C

1 paper

NM_000179.3

p.E487D

c.1461G>T