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.E376D

c.1128A>T

Surrounding Variants

2 papers

NM_000051.4

p.E376D

c.1128A>C

1 paper

NM_000051.4

p.E376G

c.1127A>G

2 papers

NM_000051.4

p.E376K

c.1126G>A

1 paper

NM_000051.4

p.E376_S377insFs

c.1128_1129insA

1 paper

NM_000051.4

p.E376_S377insFs

c.1128_1129insAA

4 papers

NM_000051.4

p.E376fs

c.1126_1127fs

6 papers

NM_000051.4

p.E376*

c.1126G>T

1 paper

NM_000051.4

p.E376delFs

c.1128delA

4 papers

NM_000051.4

p.E376fs

c.1126_1127fs

2 papers

NM_000051.4

p.S377S

c.1131T>A

4 papers

NM_000051.4

p.S378R

c.1132A>C

11 papers

NM_000051.4

p.S378G

c.1132A>G