Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.I2920T

c.8759T>C

Surrounding Variants

1 paper

NM_000051.4

p.I2920fs

c.8758_8759fs

1 paper

NM_000051.4

p.T2921fs

c.8761_8762fs

3 papers

NM_000051.4

p.T2921K

c.8762C>A

1 paper

NM_000051.4

p.T2921R

c.8762C>G

12 papers

NM_000051.4

p.T2921M

c.8762C>T

2 papers

NM_000051.4

p.G2919D

c.8756G>A

1 paper

NM_000051.4

p.T2921T

c.8763G>A

2 papers

NM_000051.4

p.G2922S

c.8764G>A

1 paper

NM_000051.4

p.G2922_V2923insAA

c.8764_8768ins6

1 paper

NM_000051.4

p.G2922D

c.8765G>A

1 paper

NM_000051.4

p.G2922A

c.8765G>C

10 papers

NM_000051.4

p.G2922_V2923insFs

c.8766_8767insT