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

2 papers

NM_000051.4

p.I500T

c.1499T>C

Surrounding Variants

2 papers

NM_000051.4

p.Q501K

c.1501C>A

9 papers

NM_000051.4

p.Q501*

c.1501C>T

1 paper

NM_000051.4

p.Q501P

c.1502A>C

1 paper

NM_000051.4

p.Q499R

c.1496A>G

1 paper

NM_000051.4

p.Q501R

c.1502A>G

1 paper

NM_000051.4

p.Q501L

c.1502A>T

1 paper

NM_000051.4

p.A502_E503delFs

c.1504_1508del5

1 paper

NM_000051.4

p.Q499K

c.1495C>A

4 papers

NM_000051.4

p.Q499E

c.1495C>G

7 papers

NM_000051.4

p.Q499*

c.1495C>T

1 paper

NM_000051.4

p.A502T

c.1504G>A

2 papers

NM_000051.4

p.E498D

c.1494G>C