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.L236insFs

c.707_708ins16

Surrounding Variants

3 papers

NM_000051.4

p.L236P

c.707T>C

1 paper

NM_000051.4

p.L236R

c.707T>G

1 paper

NM_000051.4

p.L236fs

c.706_707fs

1 paper

NM_000051.4

p.L236insFs

c.707dupT

2 papers

NM_000051.4

p.L236V

c.706C>G

1 paper

NM_000051.4

p.L236F

c.706C>T

1 paper

NM_000051.4

p.L236L

c.708T>A

5 papers

NM_000051.4

p.T237insFs

c.709dupA

1 paper

NM_000051.4

p.T237fs

c.709_710fs

1 paper

NM_000051.4

p.T237A

c.709A>G

2 papers

NM_000051.4

p.T237delFs

c.710delC

2 papers

NM_000051.4

p.T237fs

c.709_710fs