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.H2254L

c.6761A>T

Surrounding Variants

3 papers

NM_000051.4

p.H2254P

c.6761A>C

1 paper

NM_000051.4

p.H2254N

c.6760C>A

1 paper

NM_000051.4

p.H2254fs

c.6760_6761fs

2 papers

NM_000051.4

p.K2253N

c.6759A>C

1 paper

NM_000051.4

p.K2253K

c.6759A>G

2 papers

NM_000051.4

p.K2253N

c.6759A>T

2 papers

NM_000051.4

p.H2254_L2255del2

c.6760_6764del6

1 paper

NM_000051.4

p.L2255F

c.6763C>T

1 paper

NM_000051.4

p.L2255delFs

c.6765delT

3 papers

NM_000051.4

p.K2253T

c.6758A>C

1 paper

NM_000051.4

p.H2254delFs

c.6761_6762delAC

1 paper

NM_000051.4

p.L2255P

c.6764T>C